A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees.
about
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2PBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markersUnexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta.A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetesVariants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds.Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation SequencingFamily Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart DiseaseUNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
P2860
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P2860
A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees.
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A system for exact and approxi ...... f SNP data in large pedigrees.
@ast
A system for exact and approxi ...... f SNP data in large pedigrees.
@en
type
label
A system for exact and approxi ...... f SNP data in large pedigrees.
@ast
A system for exact and approxi ...... f SNP data in large pedigrees.
@en
prefLabel
A system for exact and approxi ...... f SNP data in large pedigrees.
@ast
A system for exact and approxi ...... f SNP data in large pedigrees.
@en
P2093
P2860
P356
P1433
P1476
A system for exact and approxi ...... f SNP data in large pedigrees.
@en
P2093
Adel Shalata
Andrei Anisenia
Anna Tzemach
Dan Geiger
Dvir Tuberg
Eddie Galfrin
Elizabeth Thompson
Irena Gannon
Lars Otten
Mark Silberstein
P2860
P304
P356
10.1093/BIOINFORMATICS/BTS658
P407
P577
2012-11-18T00:00:00Z