Human Mutation

Results: 293



#Item
61Human genome / Gene / Mutation / Zellweger syndrome / Quantitative trait locus / Caretaker gene / Ciliopathy / Biology / Genetics / Philosophy of biology

The human disease network Kwang-Il Goh*†‡§, Michael E. Cusick†‡¶, David Valle储, Barton Childs储, Marc Vidal†‡¶**, and Albert-La´szlo´ Baraba´si*†‡** *Center for Complex Network Research and Depar

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Source URL: www.pnas.org

Language: English - Date: 2007-11-02 14:03:40
62Gene / Intron / Molecular evolution / Human genome / Evolution / DNA / Unequal crossing over / Transposable element / Population genetics / Biology / Genetics / Mutation

UNIQUENESS & UNIVERSALITY In a Biological World Edited by François Gros

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Source URL: www.iubs.org

Language: English - Date: 2010-07-30 09:30:46
63Molecular biology / Genetic genealogy / DNA / Haplotype / Single-nucleotide polymorphism / P53 / SNP genotyping / Biology / Genetics / Population genetics

Primers sequences for TP53 SNPs From Garritano et al., Human mutation, 2009 Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

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Source URL: p53.iarc.fr

Language: English - Date: 2012-10-18 07:21:42
64Genomics / Autism / Molecular biology / Autism Speaks / Human genome / PTEN / Noncoding DNA / Full genome sequencing / Mutation / Biology / Genetics / DNA

SFARI_final_logo_working_files

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Source URL: simonsfoundation.s3.amazonaws.com

Language: English - Date: 2014-10-28 10:01:46
65Genetics / Tumor suppressor genes / Apoptosis / P53 / Oligodendroglioma / Glioblastoma multiforme / Glioma / Li-Fraumeni syndrome / Point mutation / Biology / Brain tumor / Syndromes

Section of Molecular Pathology (mpa) Section Head Dr Hiroko Ohgaki The Section of Molecular Pathology studies the molecular basis of human neoplasms, in particular brain tumours, using tumour samples from patients

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Source URL: www.iarc.fr

Language: English - Date: 2015-02-25 08:38:01
66Genomics / Genetic mapping / Human evolution / Human genome / Mutation / Biology / Genetics / Philosophy of biology

Supporting Information on “The Human Disease Network” Kwang-Il Goh, Michael E. Cusick, David Valle, Barton Childs, Marc Vidal & Albert-László Barabási Contents S1.

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Source URL: www.barabasilab.com

Language: English - Date: 2008-11-24 14:22:24
67Mitochondrial disease / Mitochondrion / Non-Mendelian inheritance / Mutation / Mitochondrial DNA / Human genome / Chromosome / Duchenne muscular dystrophy / Genetic testing / Biology / Genetics / Genetic disorder

Facts About Genetics and Neuromuscular Diseases

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Source URL: www.mda.org

Language: English - Date: 2011-10-03 18:31:08
68Syndromes / Autism / Fragile X syndrome / Mental retardation / Pediatrics / FMR1 / Medical genetics / Mutation / Sherman paradox / Health / Medicine / Biology

Fragile X Syndrome Fact sheet 2: Guidelines for testing for fragile X syndrome The Human Genetics Society of Australasia has prepared the following statement for medical practitioners. Clinical features and genetics of f

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Source URL: www.cddh.monash.org

Language: English - Date: 2012-03-27 00:15:44
69Laboratory techniques / Cytogenetics / Polymerase chain reaction / Microarrays / Fluorescence in situ hybridization / Array-comparative genomic hybridization / Hybridization probe / Multiplex ligation-dependent probe amplification / Real-time polymerase chain reaction / Biology / Genetics / Molecular biology

HUMAN MUTATION 27(4), 376^386, 2006 METHODS Determination of Genomic Copy Number With Quantitative Microsphere Hybridization

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Source URL: cytognomix.org

Language: English - Date: 2008-03-06 10:16:46
70Molecular evolution / Classical genetics / Speciation / mutation / 2R hypothesis / Paleopolyploidy / Evolution by Gene Duplication / Gene duplication / Segmental duplication / Biology / Genetics / Molecular genetics

Proc. R. Soc. B, 277–283 doi:rspbPublished online 04 February 2005 Rates and patterns of gene duplication and loss in the human genome

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Source URL: taxonomy.zoology.gla.ac.uk

Language: English - Date: 2007-07-24 12:40:08
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