Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.
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Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Runs of homozygosity in European populationsA second generation human haplotype map of over 3.1 million SNPsUsing familial information for variant filtering in high-throughput sequencing studiesArray-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisAssociation of TALS developmental disorder with defect in minor splicing component U4atac snRNAFSuite: exploiting inbreeding in dense SNP chip and exome data.Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data.Genome-wide autozygosity mapping in human populations.Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.Population-genetic influences on genomic estimates of the inbreeding coefficient: a global perspectiveNeuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.Multipoint approximations of identity-by-descent probabilities for accurate linkage analysis of distantly related individuals.Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.A model-based approach to characterize individual inbreeding at both global and local genomic scales.Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.Evolution of GOUNDRY, a cryptic subgroup of Anopheles gambiae s.l., and its impact on susceptibility to Plasmodium infection.Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.HomozygosityMapper--an interactive approach to homozygosity mapping.Homozygosity mapping of depressive disorder in a large family from Pakistan: significant linkage on chromosome 6 and 9.RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3Développement embryonnaire précoce
P2860
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P2860
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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name
Using genomic inbreeding coeff ...... tion to Taybi-Linder syndrome.
@en
Using genomic inbreeding coeff ...... tion to Taybi-Linder syndrome.
@nl
type
label
Using genomic inbreeding coeff ...... tion to Taybi-Linder syndrome.
@en
Using genomic inbreeding coeff ...... tion to Taybi-Linder syndrome.
@nl
prefLabel
Using genomic inbreeding coeff ...... tion to Taybi-Linder syndrome.
@en
Using genomic inbreeding coeff ...... tion to Taybi-Linder syndrome.
@nl
P2093
P2860
P50
P356
P1476
Using genomic inbreeding coeff ...... ation to Taybi-Linder syndrome
@en
P2093
Audrey Labalme
Elisabeth Steichen
Patrick Edery
P2860
P356
10.1086/504640
P407
P577
2006-04-28T00:00:00Z