Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
about
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndromeMolecular and phenotypic aspects of CHD7 mutation in CHARGE syndromeMutation update on the CHD7 gene involved in CHARGE syndromeMutations in the CHD7 gene: the experience of a commercial laboratoryChromodomain proteins in development: lessons from CHARGE syndrome.More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgeryClinical utility gene card for: CHARGE syndrome.Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.Clinical utility gene card for: CHARGE syndrome - update 2015.Guidelines in CHARGE syndrome and the missing link: Cranial imaging.New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
P2860
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P2860
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
description
2008 nî lūn-bûn
@nan
2008 թուականին հրատարակուած գիտական յօդուած
@hyw
2008 թվականին 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
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@ast
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@en
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@nl
type
label
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@ast
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@en
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@nl
prefLabel
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@ast
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@en
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@nl
P2093
P1476
Exon copy number alterations o ...... HARGE and CHARGE-like syndrome
@en
P2093
Conny M A van Ravenswaaij-Arts
Ilse de Wijs
Lies H Hoefsloot
Marjolijn C J Jongmans
Ronald J Admiraal
P304
P356
10.1016/J.EJMG.2008.03.003
P407
P577
2008-04-04T00:00:00Z