Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.
about
Genetics of bipolar disorderDivergent evolutionary rates in vertebrate and mammalian specific conserved non-coding elements (CNEs) in echolocating mammalsIdentification of molecular signatures specific for distinct cranial sensory ganglia in the developing chick.Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness.Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndromeVisualization of shared genomic regions and meiotic recombination in high-density SNP dataCis and trans effects of human genomic variants on gene expression.Phenotype mining in CNV carriers from a population cohort.Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible geneChromosome 10q26 deletion syndrome: Two new cases and a review of the literature.FGF signaling regulates otic placode induction and refinement by controlling both ectodermal target genes and hindbrain Wnt8a.Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature.
P2860
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P2860
Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.
description
2009 nî lūn-bûn
@nan
2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年学术文章
@zh-my
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@zh-sg
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@yue
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name
Molecular (SNP) analyses of ov ...... aring and vestibular function.
@en
type
label
Molecular (SNP) analyses of ov ...... aring and vestibular function.
@en
prefLabel
Molecular (SNP) analyses of ov ...... aring and vestibular function.
@en
P2093
P2860
P356
P1476
Molecular (SNP) analyses of ov ...... aring and vestibular function.
@en
P2093
Elizabeth S Wohler
Emily Lisi
George H Thomas
Jonathan Pevsner
Julie E Hoover-Fong
Melonie A Nance
Nathaniel D Miller
P2860
P304
P356
10.1002/AJMG.A.32705
P407
P577
2009-02-01T00:00:00Z