A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
about
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndromeDefects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndromeMutation update on the CHD7 gene involved in CHARGE syndromeMutations in the CHD7 gene: the experience of a commercial laboratoryMore Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.Anosmia-A Clinical Review.Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.Olfactory loss and dysfunction in ciliopathies: Molecular mechanisms and potential therapies.A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.A role for TENM1 mutations in congenital general anosmia.
P2860
Q24634411-31D1E764-FB6A-4EBC-9115-5D1859785376Q24648502-52BA964B-E89D-4CF5-B177-D2E8EBA1D713Q28263190-F2E36E69-DA62-40F2-BC00-9DAEC3B3CE6CQ34405763-F538070B-78BF-4026-9543-D64F593B06AAQ37013092-3087F225-B53E-42B2-AC85-0C687BDCFFC5Q39322438-1C086D8E-3008-4340-A42B-789456E78054Q41126905-76C5BD0A-BEB3-4D81-B344-86BC0AFB5645Q47557894-FC0FD245-9030-40F4-8D93-C5958D6146CFQ47844332-A6D748E1-4F59-4373-9B2B-D965C8E07F5EQ52425135-9436E1D3-EDCD-4B3D-8CBD-E56A1CCDF379
P2860
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@ast
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@en
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@nl
type
label
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@ast
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@en
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@nl
prefLabel
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@ast
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@en
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@nl
P2093
P1476
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
@en
P2093
Helena A Kääriäinen
Jukka O Laine
Kirsi A Huoponen
Maila T Penttinen
Marja H Hietala
Pia E Vuorela
P304
P356
10.1097/MCD.0B013E328306A704
P407
P577
2008-10-01T00:00:00Z