Generating linkage mapping files from Affymetrix SNP chip data.
about
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeExome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardationKufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Using familial information for variant filtering in high-throughput sequencing studiesMMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebratesMutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisPBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markersGFI1B mutation causes a bleeding disorder with abnormal platelet function.Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsyIdentification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresWhole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing lossStrikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease StudiesA founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardiaMutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.Combined linkage and association analysis of classical Hodgkin lymphoma.Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomaliesRecessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
P2860
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P2860
Generating linkage mapping files from Affymetrix SNP chip data.
description
2009 nî lūn-bûn
@nan
2009 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Generating linkage mapping files from Affymetrix SNP chip data.
@ast
Generating linkage mapping files from Affymetrix SNP chip data.
@en
type
label
Generating linkage mapping files from Affymetrix SNP chip data.
@ast
Generating linkage mapping files from Affymetrix SNP chip data.
@en
prefLabel
Generating linkage mapping files from Affymetrix SNP chip data.
@ast
Generating linkage mapping files from Affymetrix SNP chip data.
@en
P356
P1433
P1476
Generating linkage mapping files from Affymetrix SNP chip data.
@en
P2093
P304
P356
10.1093/BIOINFORMATICS/BTP313
P407
P577
2009-05-12T00:00:00Z