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Alkaptonurie PowerPoint PPT Presentation
Alkaptonurie - Title: Polikliniek metabole ziekten, interne geneeskunde Author: z396105 Last modified by: Jos Lut Created Date: 6/11/2007 10:44:10 AM Document presentation format
Title: Polikliniek metabole ziekten, interne geneeskunde Author: z396105 Last modified by: Jos Lut Created Date: 6/11/2007 10:44:10 AM Document presentation format
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Alkaptonuria: One Hundred Years After Garrod An Introduction L Ranganath Consultant in Clinical Bioc PowerPoint PPT Presentation
Alkaptonuria: One Hundred Years After Garrod An Introduction L Ranganath Consultant in Clinical Bioc - 21 histidine and 23 tyrosine residues. Functional hexamer arranged as dimers of 3 ... Cardiovascular (valvulitis, fibrosis, calcification) ...
21 histidine and 23 tyrosine residues. Functional hexamer arranged as dimers of 3 ... Cardiovascular (valvulitis, fibrosis, calcification) ...
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Todays Outline PowerPoint PPT Presentation
Todays Outline - ... but their daughter was born with alkaptonuria, an inherited metabolic disorder. If alkaptonuria is like most other human hereditary disorders, the probability ...
... but their daughter was born with alkaptonuria, an inherited metabolic disorder. If alkaptonuria is like most other human hereditary disorders, the probability ...
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Protein Metabolism PowerPoint PPT Presentation
Protein Metabolism - B. Goitrous Cretinism D. Tyrosinosis. C. Albinism E. Alkaptonuria. Heme Catabolism. Heme to Bilirubin in liver to gall bladder to small intestine ...
B. Goitrous Cretinism D. Tyrosinosis. C. Albinism E. Alkaptonuria. Heme Catabolism. Heme to Bilirubin in liver to gall bladder to small intestine ...
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Genetics Problems PowerPoint PPT Presentation
Genetics Problems - ... Alkaptonuria must be recessive George Sandra Tom Sam Arlene Wilma Ann Michael Carla Daniel Alan Tina Christopher Now we can fill in a lot of the genotypes!
... Alkaptonuria must be recessive George Sandra Tom Sam Arlene Wilma Ann Michael Carla Daniel Alan Tina Christopher Now we can fill in a lot of the genotypes!
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Urea Cycle and Inborn Errors of metabolism PowerPoint PPT Presentation
Urea Cycle and Inborn Errors of metabolism - The urine turns brownish-black when it mixes with air. Alkaptonuria is inherited, which means it is passed down from parents to their children. To get ...
The urine turns brownish-black when it mixes with air. Alkaptonuria is inherited, which means it is passed down from parents to their children. To get ...
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What is a gene? PowerPoint PPT Presentation
What is a gene? - Garrod (1909) Inborn errors of Metabolism Inherited human metabolic disorders such as alkaptonuria result from alternative metabolism. ... So the nucleotide, ...
Garrod (1909) Inborn errors of Metabolism Inherited human metabolic disorders such as alkaptonuria result from alternative metabolism. ... So the nucleotide, ...
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The Case of the Orange Sweat Chromhidrosis PowerPoint PPT Presentation
The Case of the Orange Sweat Chromhidrosis - Usually found in the axillae, face or areola. More common in ... Bleeding diathesis. Alkaptonuria. Poisoning. Addison's Disease. Hemochromatosis. Discussion ...
Usually found in the axillae, face or areola. More common in ... Bleeding diathesis. Alkaptonuria. Poisoning. Addison's Disease. Hemochromatosis. Discussion ...
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What is an enzyme A biological catalyst PowerPoint PPT Presentation
What is an enzyme A biological catalyst - Is not itself consumed in the reaction. Lowers the ... Enzyme 5 defect- alkaptonuria. Enzyme 6 defect- albinism. Many such defects have been identified ...
Is not itself consumed in the reaction. Lowers the ... Enzyme 5 defect- alkaptonuria. Enzyme 6 defect- albinism. Many such defects have been identified ...
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The use of Aspergillus nidulans to identify the genetic defect responsible for the human metabolic d PowerPoint PPT Presentation
The use of Aspergillus nidulans to identify the genetic defect responsible for the human metabolic d - But the search for the defective enzyme responsible for alkaptonuria was still on. ... other enzyme mutations upstream from FAAH were responsible. Lac Phe ...
But the search for the defective enzyme responsible for alkaptonuria was still on. ... other enzyme mutations upstream from FAAH were responsible. Lac Phe ...
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The Urinary System PowerPoint PPT Presentation
The Urinary System - Proximal convoluted tubule creatine, lactic, citric, uric, and ascorbic acids; ... creatine. Alkaptonuria urine turns black when allowed to stand genetic ...
Proximal convoluted tubule creatine, lactic, citric, uric, and ascorbic acids; ... creatine. Alkaptonuria urine turns black when allowed to stand genetic ...
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Welcome to the continuation of Biol 213 Genetics! PowerPoint PPT Presentation
Welcome to the continuation of Biol 213 Genetics! - Upcoming events. Monday, Sept 18: Problem day (Problem Set 3) ... Today's events. DNA Replication. Integration of leading/lagging strand synthesis ...
Upcoming events. Monday, Sept 18: Problem day (Problem Set 3) ... Today's events. DNA Replication. Integration of leading/lagging strand synthesis ...
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Protein Metabolism PowerPoint PPT Presentation
Protein Metabolism - ... Other errors of metabolism Heme Catabolism Bilirubin Jaundice Lab Test Summary of Metabolism Diagnostic Serum Enzymes Alcohol Metabolism Effects ...
... Other errors of metabolism Heme Catabolism Bilirubin Jaundice Lab Test Summary of Metabolism Diagnostic Serum Enzymes Alcohol Metabolism Effects ...
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Human metabolic networks PowerPoint PPT Presentation
Human metabolic networks - Title: Human metabolic networks Author: bsd Last modified by: Tim Fowler Created Date: 7/12/2006 7:15:10 PM Document presentation format: On-screen Show
Title: Human metabolic networks Author: bsd Last modified by: Tim Fowler Created Date: 7/12/2006 7:15:10 PM Document presentation format: On-screen Show
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Soft Tissue Calcification and Ossification PowerPoint PPT Presentation
Soft Tissue Calcification and Ossification - Soft Tissue Calcification and Ossification Exclude underlying bone disease Exclude OSSIFICATION Ossification Look for: Trabeculation Cortico-medullary differentiation ...
Soft Tissue Calcification and Ossification Exclude underlying bone disease Exclude OSSIFICATION Ossification Look for: Trabeculation Cortico-medullary differentiation ...
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Pedigree PowerPoint PPT Presentation
Pedigree - Pedigree Not just a dog food company Pedigree Some conditions/traits appear often in some families This is a clue that the condition/trait is genetic Looking at a ...
Pedigree Not just a dog food company Pedigree Some conditions/traits appear often in some families This is a clue that the condition/trait is genetic Looking at a ...
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William A' Gahl, M'D', Ph'D' PowerPoint PPT Presentation
William A' Gahl, M'D', Ph'D' - William A' Gahl, M'D', Ph'D'
William A' Gahl, M'D', Ph'D'
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Molecular Genetics PowerPoint PPT Presentation
Molecular Genetics - Title: Molecular Genetics Author: rubina khan Last modified by: rubina khan Created Date: 11/26/2007 10:10:59 PM Document presentation format: On-screen Show
Title: Molecular Genetics Author: rubina khan Last modified by: rubina khan Created Date: 11/26/2007 10:10:59 PM Document presentation format: On-screen Show
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Global Metabolic Disorders Market, By Disorder and Geography Report Forecast 2021 PowerPoint PPT Presentation
Global Metabolic Disorders Market, By Disorder and Geography Report Forecast 2021 - Metabolism is the process to break down food to make energy for the body. The food we eat is chemically breakdown into sugars and acids. The body can use this fuel, or it can store the energy in body tissues, such as liver, muscles, and body fat. The patients develop metabolic disorder when some organs, such as liver or pancreas, become diseased or do not function normally.
Metabolism is the process to break down food to make energy for the body. The food we eat is chemically breakdown into sugars and acids. The body can use this fuel, or it can store the energy in body tissues, such as liver, muscles, and body fat. The patients develop metabolic disorder when some organs, such as liver or pancreas, become diseased or do not function normally.
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Amino Acid Degradation and Synthesis PowerPoint PPT Presentation
Amino Acid Degradation and Synthesis - Synthesis by amidation Glutamine: This amino acid, which contains an amide linkage with ammonia at the -carboxyl, is formed from glutamate by glutamine synthetase.
Synthesis by amidation Glutamine: This amino acid, which contains an amide linkage with ammonia at the -carboxyl, is formed from glutamate by glutamine synthetase.
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Protein and Amino Acid Metabolism PowerPoint PPT Presentation
Protein and Amino Acid Metabolism - II. 1. Disposal of Nitrogen 2. Degradation of C-skeleton C ...
II. 1. Disposal of Nitrogen 2. Degradation of C-skeleton C ...
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Garrod's Croonian Lectures 1908 PowerPoint PPT Presentation
Garrod's Croonian Lectures 1908 - The McGill University Health Centre - The Montreal Children's Hospital ... CYSTINURIA - HEREDITY. Mendelian trait MIM # 220100. Two phenotypes (Harris) ...
The McGill University Health Centre - The Montreal Children's Hospital ... CYSTINURIA - HEREDITY. Mendelian trait MIM # 220100. Two phenotypes (Harris) ...
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Inborn errors of amino acid metabolism PowerPoint PPT Presentation
Inborn errors of amino acid metabolism - Genetic defects, biochemical abnormalities, clinical features and management of inborn errors of amino acid metabolism
Genetic defects, biochemical abnormalities, clinical features and management of inborn errors of amino acid metabolism
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Archibald Garrod 1902 PowerPoint PPT Presentation
Archibald Garrod 1902 - ??? ???? ??????? ???????? ??????? ?????? ???? ??????? ???? ' ... ???? ??? ??? ????? ????? ?????? ??????? ????????? ?????? ... (alkapton) Turns black in ...
??? ???? ??????? ???????? ??????? ?????? ???? ??????? ???? ' ... ???? ??? ??? ????? ????? ?????? ??????? ????????? ?????? ... (alkapton) Turns black in ...
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What is an enzyme? A biological catalyst PowerPoint PPT Presentation
What is an enzyme? A biological catalyst - Title: PowerPoint Presentation Author: HCDuser Last modified by: Hartnell Created Date: 2/6/2002 8:33:56 PM Document presentation format: On-screen Show (4:3)
Title: PowerPoint Presentation Author: HCDuser Last modified by: Hartnell Created Date: 2/6/2002 8:33:56 PM Document presentation format: On-screen Show (4:3)
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For Questions 1-6, match the labels to the parts of the pedigree chart shown below. Some of the labels may be used more than once. PowerPoint PPT Presentation
For Questions 1-6, match the labels to the parts of the pedigree chart shown below. Some of the labels may be used more than once. - Title: December 10, 2010 Author: keasterly Last modified by: keasterly Created Date: 12/10/2010 10:52:15 AM Document presentation format: On-screen Show (4:3)
Title: December 10, 2010 Author: keasterly Last modified by: keasterly Created Date: 12/10/2010 10:52:15 AM Document presentation format: On-screen Show (4:3)
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AKU: From classical genetics to gene cloning PowerPoint PPT Presentation
AKU: From classical genetics to gene cloning - AKU: From classical genetics to gene cloning. Classical genetics ... retrieved genomic clone. HGO mapped by somatic cell hybrid and FISH analysis - HGO maps to AKU! ...
AKU: From classical genetics to gene cloning. Classical genetics ... retrieved genomic clone. HGO mapped by somatic cell hybrid and FISH analysis - HGO maps to AKU! ...
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Pathways of Amino Acid Degredation PowerPoint PPT Presentation
Pathways of Amino Acid Degredation - Pathways of Amino Acid Degredation Lehninger 18.3 1/16/09 Overview We cannot store amino acids so they are converted into intermediates in metabolic or biosynthetic ...
Pathways of Amino Acid Degredation Lehninger 18.3 1/16/09 Overview We cannot store amino acids so they are converted into intermediates in metabolic or biosynthetic ...
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Genes code for proteins PowerPoint PPT Presentation
Genes code for proteins - George Beadle (left) and Edward Tatum (right) receiving their Nobel Prizes ' ... It was probably George W. Beadle who brought Garrod to the attention of ...
George Beadle (left) and Edward Tatum (right) receiving their Nobel Prizes ' ... It was probably George W. Beadle who brought Garrod to the attention of ...
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Chapter 11 Complex Inheritance and Human Heredity PowerPoint PPT Presentation
Chapter 11 Complex Inheritance and Human Heredity - Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance Recessive Genetic Disorders Mendel s work went unnoticed by the ...
Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance Recessive Genetic Disorders Mendel s work went unnoticed by the ...
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Dominant PowerPoint PPT Presentation
Dominant - Title: Slide 1 Author: bromwell Last modified by: bromwell Created Date: 4/14/2008 1:44:58 AM Document presentation format: On-screen Show (4:3) Other titles
Title: Slide 1 Author: bromwell Last modified by: bromwell Created Date: 4/14/2008 1:44:58 AM Document presentation format: On-screen Show (4:3) Other titles
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Medical%20Genetics%20in%202020? PowerPoint PPT Presentation
Medical%20Genetics%20in%202020? - Human Genome Project is launched. The sequencing all 3.2 billion letters of the human ... 2003 Completion of the Human Genome sequencing. ...A brief timeline...
Human Genome Project is launched. The sequencing all 3.2 billion letters of the human ... 2003 Completion of the Human Genome sequencing. ...A brief timeline...
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Therapies for Two Rare Diseases ICORD Stockholm, Sweden February 15, 2005 William A' Gahl, MD, PhD C PowerPoint PPT Presentation
Therapies for Two Rare Diseases ICORD Stockholm, Sweden February 15, 2005 William A' Gahl, MD, PhD C - Therapies for Two Rare Diseases ICORD Stockholm, Sweden February 15, 2005 William A' Gahl, MD, PhD C
Therapies for Two Rare Diseases ICORD Stockholm, Sweden February 15, 2005 William A' Gahl, MD, PhD C
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How Genes Work PowerPoint PPT Presentation
How Genes Work - ... in the genetic code would be three nucleotides long Minimum code length that could specify the 20 different amino acids found in proteins This triplet code is ...
... in the genetic code would be three nucleotides long Minimum code length that could specify the 20 different amino acids found in proteins This triplet code is ...
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Biochemical Genetics: PowerPoint PPT Presentation
Biochemical Genetics: - Cystic fibrosis phenotype ... Cystic Fibrosis Genetic Analysis Consortium ... The mutation that causes cystic fibrosis has survived for about 50,000 years. ...
Cystic fibrosis phenotype ... Cystic Fibrosis Genetic Analysis Consortium ... The mutation that causes cystic fibrosis has survived for about 50,000 years. ...
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AMINO ACIDS: Structure PowerPoint PPT Presentation
AMINO ACIDS: Structure - Title: DIGESTION and ABSORPTION Author: IT Services Last modified by: lenovo1 Created Date: 1/15/2003 6:57:51 PM Document presentation format: On-screen Show (4:3)
Title: DIGESTION and ABSORPTION Author: IT Services Last modified by: lenovo1 Created Date: 1/15/2003 6:57:51 PM Document presentation format: On-screen Show (4:3)
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Week 7: Intro to UA PowerPoint PPT Presentation
Week 7: Intro to UA - One of the oldest 'lab' procedure. Diabetes mellitus vs diabetes ... Afferent and efferent arterioles. Glomerulus. Bowman's capsule. Proximal convoluted tubules ...
One of the oldest 'lab' procedure. Diabetes mellitus vs diabetes ... Afferent and efferent arterioles. Glomerulus. Bowman's capsule. Proximal convoluted tubules ...
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What is a gene? PowerPoint PPT Presentation
What is a gene? - What is a gene? Definitions of the gene The gene is to genetics what the atom is to chemistry. The gene is the unit of genetic information that controls a specific ...
What is a gene? Definitions of the gene The gene is to genetics what the atom is to chemistry. The gene is the unit of genetic information that controls a specific ...
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Gregor Johann Mendel (July 20, 1822[1]  PowerPoint PPT Presentation
Gregor Johann Mendel (July 20, 1822[1] - Title: PowerPoint Presentation Created Date: 1/1/1601 12:00:00 AM Document presentation format: Presentazione su schermo (4:3) Other titles: Times New Roman Arial ...
Title: PowerPoint Presentation Created Date: 1/1/1601 12:00:00 AM Document presentation format: Presentazione su schermo (4:3) Other titles: Times New Roman Arial ...
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Chapter 17 - Amino Acid Metabolism PowerPoint PPT Presentation
Chapter 17 - Amino Acid Metabolism - PROTEIN METABOLISM: SPECIFIC WAYS OF AMINO ACIDS CATABOLISM AND SYNTHESIS SPECIFIC WAYS OF AMINO ACID CATABOLISM The carbon skeletons of 20 fundamental amino acids ...
PROTEIN METABOLISM: SPECIFIC WAYS OF AMINO ACIDS CATABOLISM AND SYNTHESIS SPECIFIC WAYS OF AMINO ACID CATABOLISM The carbon skeletons of 20 fundamental amino acids ...
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The Structure, Replication, and Repair of DNA PowerPoint PPT Presentation
The Structure, Replication, and Repair of DNA - The Structure, Replication, and Repair of DNA. Chapter Overview. The Evidence for DNA as the Genetic Material. The ... George Beadle and Edward Tatum (1941) ...
The Structure, Replication, and Repair of DNA. Chapter Overview. The Evidence for DNA as the Genetic Material. The ... George Beadle and Edward Tatum (1941) ...
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Gene Expression PowerPoint PPT Presentation
Gene Expression - Gene Expression Chapter 13
Gene Expression Chapter 13
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Intracellular%20Accumulation-2%20Pigments PowerPoint PPT Presentation
Intracellular%20Accumulation-2%20Pigments - Intracellular Accumulation-2 Pigments Dr Shoaib Raza Pigments They are colored substances Normal constituents of the cell Melanin Abnormal and accumulate only under ...
Intracellular Accumulation-2 Pigments Dr Shoaib Raza Pigments They are colored substances Normal constituents of the cell Melanin Abnormal and accumulate only under ...
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Transmission%20(Classical,%20Mendelian)%20Genetics%20%20Ch%2011 PowerPoint PPT Presentation
Transmission%20(Classical,%20Mendelian)%20Genetics%20%20Ch%2011 - Gregor Mendel Experiments in Plant Hybridization, 1865 Controlled experiments, mathematical analysis Pisum sativum, the garden pea What makes this a good model ...
Gregor Mendel Experiments in Plant Hybridization, 1865 Controlled experiments, mathematical analysis Pisum sativum, the garden pea What makes this a good model ...
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METABOLISME PROTEIN PowerPoint PPT Presentation
METABOLISME PROTEIN - Title: METABOLISME ASAM AMINO Author: Andreas Last modified by: Toshiba Created Date: 1/2/2003 12:20:14 AM Document presentation format: On-screen Show
Title: METABOLISME ASAM AMINO Author: Andreas Last modified by: Toshiba Created Date: 1/2/2003 12:20:14 AM Document presentation format: On-screen Show
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Chapter%2017%20-%20Amino%20Acid%20Metabolism PowerPoint PPT Presentation
Chapter%2017%20-%20Amino%20Acid%20Metabolism - PROTEIN METABOLISM: SPECIFIC WAYS OF AMINO ACIDS CATABOLISM AND SYNTHESIS SPECIFIC WAYS OF AMINO ACID CATABOLISM The carbon skeletons of 20 fundamental amino acids ...
PROTEIN METABOLISM: SPECIFIC WAYS OF AMINO ACIDS CATABOLISM AND SYNTHESIS SPECIFIC WAYS OF AMINO ACID CATABOLISM The carbon skeletons of 20 fundamental amino acids ...
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The separation of lactatdehydrogense (LDH) isoenzymes by agarose electrophoresis PowerPoint PPT Presentation
The separation of lactatdehydrogense (LDH) isoenzymes by agarose electrophoresis - The separation of lactatdehydrogense (LDH) isoenzymes by agarose electrophoresis MUDr. Michal Jurajda Svatava Tsch plov rka Kucht kov
The separation of lactatdehydrogense (LDH) isoenzymes by agarose electrophoresis MUDr. Michal Jurajda Svatava Tsch plov rka Kucht kov
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The Central Dogma Of Molecular Biology PowerPoint PPT Presentation
The Central Dogma Of Molecular Biology - The Central Dogma Of Molecular Biology DNA replication DNA transcription Chromosome synthesis: 2 chromatids NOT NEEDED IN GENE EXPRESSION! RNA Polypeptide
The Central Dogma Of Molecular Biology DNA replication DNA transcription Chromosome synthesis: 2 chromatids NOT NEEDED IN GENE EXPRESSION! RNA Polypeptide
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proteins link genotype to phenotype PowerPoint PPT Presentation
proteins link genotype to phenotype - Title: Chapter 17: From Gene to Protein Author: GV WFL Last modified by: Windows User Created Date: 9/22/2008 11:42:43 PM Document presentation format
Title: Chapter 17: From Gene to Protein Author: GV WFL Last modified by: Windows User Created Date: 9/22/2008 11:42:43 PM Document presentation format
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Chapters 5 and 7  Genetics PowerPoint PPT Presentation
Chapters 5 and 7 Genetics - Chapters 5 and 7 Genetics
Chapters 5 and 7 Genetics
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Phenylketonuria (PKU) PowerPoint PPT Presentation
Phenylketonuria (PKU) - Phenylketonuria (PKU) 1 in every 10,000 20,000 births Results in mental retardation unless detected early. Also Causes fair skin. Defect phenylalanine ...
Phenylketonuria (PKU) 1 in every 10,000 20,000 births Results in mental retardation unless detected early. Also Causes fair skin. Defect phenylalanine ...
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METABOLISME PROTEIN PowerPoint PPT Presentation
METABOLISME PROTEIN - Title: Slide 1 Author: TXN25N Last modified by: Zul Edward Created Date: 6/17/2008 12:12:19 AM Document presentation format: On-screen Show (4:3) Company
Title: Slide 1 Author: TXN25N Last modified by: Zul Edward Created Date: 6/17/2008 12:12:19 AM Document presentation format: On-screen Show (4:3) Company
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Genes to Proteins PowerPoint PPT Presentation
Genes to Proteins - Microscopically, one finds vacuolization in neuronal cytoplasm and dendrites, ... This leads to vacuolization of the brain tissue. What is a Protein? Amino acid ...
Microscopically, one finds vacuolization in neuronal cytoplasm and dendrites, ... This leads to vacuolization of the brain tissue. What is a Protein? Amino acid ...
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Metabolomics: The Basics PowerPoint PPT Presentation
Metabolomics: The Basics - Metabolomics: The Basics David Wishart Depts. Comp. Sci and Bio. Sci. University of Alberta david.wishart@ualberta.ca July 16, 2005, 8th Banff Symposium
Metabolomics: The Basics David Wishart Depts. Comp. Sci and Bio. Sci. University of Alberta david.wishart@ualberta.ca July 16, 2005, 8th Banff Symposium
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Chapter 11 Complex Inheritance and Human Heredity PowerPoint PPT Presentation
Chapter 11 Complex Inheritance and Human Heredity - Carl Correns crossed white snapdragons with red snapdragons According to Mendelian genetics, ... Chapter 11 Complex Inheritance and Human Heredity Author:
Carl Correns crossed white snapdragons with red snapdragons According to Mendelian genetics, ... Chapter 11 Complex Inheritance and Human Heredity Author:
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Genomes and Genetic Architecture PowerPoint PPT Presentation
Genomes and Genetic Architecture - Lower (yeast) and more advanced (anything but the ... C. Elegans (nematode, eukaryote) multicellular eukaryote. 1.5. 1.5. 3. Filamentous Fungi (eukaryote) ...
Lower (yeast) and more advanced (anything but the ... C. Elegans (nematode, eukaryote) multicellular eukaryote. 1.5. 1.5. 3. Filamentous Fungi (eukaryote) ...
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