Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.
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A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.Navigating genetic diagnostics in patients with hearing loss.Mammalian Actins: Isoform-Specific Functions and Diseases.A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
P2860
Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.
description
2015 nî lūn-bûn
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Mutational spectrum and clinic ...... ively parallel DNA sequencing.
@en
Mutational spectrum and clinic ...... ively parallel DNA sequencing.
@nl
type
label
Mutational spectrum and clinic ...... ively parallel DNA sequencing.
@en
Mutational spectrum and clinic ...... ively parallel DNA sequencing.
@nl
prefLabel
Mutational spectrum and clinic ...... ively parallel DNA sequencing.
@en
Mutational spectrum and clinic ...... ively parallel DNA sequencing.
@nl
P2093
P2860
P356
P1476
Mutational spectrum and clinic ...... sively parallel DNA sequencing
@en
P2093
Aya Ichinose
Maiko Miyagawa
Satoshi Iwasaki
Shin-Ichi Usami
Shin-Ichiro Kitajiri
Takaaki Murata
P2860
P304
P356
10.1177/0003489415575057
P478
124 Suppl 1
P577
2015-03-19T00:00:00Z