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Human Mutation
Results: 293

#	Item
51	Molecular Human Reproduction vol.3 no.8 pp. 693–698, 1997 Single cell detection of β-thalassaemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis Nisreen El-Hashemite, Daga Add to Reading List Source URL: molehr.oxfordjournals.org Language: English - Date: 1997-09-08 08:40:25 Preimplantation genetic diagnosis Polymerase chain reaction Point mutation Thalassemia Compound heterozygosity Sickle-cell disease Single-strand conformation polymorphism Temperature gradient gel electrophoresis Biology Genetics Molecular biology
52	Medical Management of Kabuki Syndrome Compiled by Margot Schmiedge and Peta Colton Welcome Families and Professionals Add to Reading List Source URL: www.sakks.org Language: English - Date: 2013-04-26 10:06:48 Kabuki syndrome Mutation Gene Frameshift mutation Medical genetics Exome sequencing DNA Cleft lip and palate Nucleic acid sequence Biology Genetics Human genome
53	A Simulation of the Accumulation of Mitochondrial DNA Mutations with Age David C. Samuels Joanna L. Elson Add to Reading List Source URL: icsb-2001.org Language: English - Date: 2001-12-04 14:14:37 Human evolution Genetic genealogy DNA Phylogenetics Human mitochondrial genetics Mitochondrial DNA Mitochondrial Eve Mitochondrion Mutation Biology Genetics Philosophy of biology
54	LETTERS Steve Rozen High mutation rates have driven extensive structural polymorphism among human Y chromosomes Sjoerd Repping1,2, Saskia K M van Daalen2, Laura G Brown1, Cindy M Korver2, Julian Lange1, Add to Reading List Source URL: steverozen.net Language: English - Date: 2009-08-28 06:23:28 Cytogenetics Population genetics Molecular biology Human evolution Chromosome Human genome Y chromosome Human genetic variation Structural variation Biology Genetics Philosophy of biology
55	Draft_Nature_Precedings_First_Part_V5 Add to Reading List Source URL: precedings.nature.com Language: English Gene expression Genetics RNA Genetic code Translation Human mitochondrial genetics Mitochondrion Mutation Amino acid Biology Protein biosynthesis Molecular biology
56	PDF Document Add to Reading List Source URL: www.biobase-international.com Language: English - Date: 2015-01-13 11:49:05 Population genetics Mutation Human genetics Single-nucleotide polymorphism Point mutation Human genome Polymorphism Genome-wide association study Penetrance Biology Genetics Molecular biology
57	Les e-publi de l’Europe en mutation La CEDH et la relation au travail HUMAN RIGHTS AND THE EMPLOYMENT RELATION THE RIGHT TO FREEDOM OF EXPRESSION AT WORK Dirk Voorhoof and Patrick Humblet Add to Reading List Source URL: europa-cnrs.unistra.fr Language: English - Date: 2014-05-13 06:00:51 Human rights European Convention on Human Rights Vogt v. Germany Article 10 of the European Convention on Human Rights Employment contract Employment Labour law Law Article 11 of the European Convention on Human Rights
58	Mitonuclear match: Optimizing fitness and fertility over generations drives ageing within generations Add to Reading List Source URL: www.nick-lane.net Language: English - Date: 2012-01-27 13:02:46 Mutation Organelles Mitochondrial genetics Mitochondrion Mitochondrial DNA Mitochondrial disease Human mitochondrial genetics Reactive oxygen species Mitochondrial biogenesis Biology Cellular respiration Integral membrane proteins
59	ACMG Standards and Guidelines April 2008 䡠 Vol. 10 䡠 No. 4 ACMG recommendations for standards for interpretation and reporting of sequence variations: Add to Reading List Source URL: www.acmg.net Language: English - Date: 2010-12-08 18:49:59 DNA Bioinformatics Evolutionary biology Mutation Human genome American College of Medical Genetics Nucleic acid sequence Medical genetics Genetic code Biology Genetics Medicine
60	How-To: SNP and INDEL detection April 23, 2014 SNP and INDEL How-To A Lumenogix White Paper Add to Reading List Source URL: inf.lumenogix.com Language: English - Date: 2014-11-13 03:16:52 Mutation Genomics Biological databases DbSNP Single-nucleotide polymorphism Indel RNA-Seq Human genome Restriction fragment length polymorphism Biology Genetics Molecular biology

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