about
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndromeMutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndromeMutation update on the CHD7 gene involved in CHARGE syndromeGreat vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in miceCHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.CHARGE syndrome: a review.Mutations in the CHD7 gene: the experience of a commercial laboratoryCHARGE syndrome: a review of the immunological aspects.Chromodomain proteins in development: lessons from CHARGE syndrome.More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.FOXN1 deficient nude severe combined immunodeficiency.Immunological aspects of 22q11.2 deletion syndrome.Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete AthymiaImportant differences in the diagnostic spectrum of primary immunodeficiency in adults versus children.Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome.Congenital T cell deficiency in a patient with CHARGE syndromeGuidelines in CHARGE syndrome and the missing link: Cranial imaging.Immunodeficiency in CHARGE syndrome.Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007 թուականին հրատարակուած գիտական յօդուած
@hyw
2007 թվականին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Immunological abnormalities in CHARGE syndrome
@ast
Immunological abnormalities in CHARGE syndrome
@en
Immunological abnormalities in CHARGE syndrome
@en-gb
Immunological abnormalities in CHARGE syndrome
@nl
type
label
Immunological abnormalities in CHARGE syndrome
@ast
Immunological abnormalities in CHARGE syndrome
@en
Immunological abnormalities in CHARGE syndrome
@en-gb
Immunological abnormalities in CHARGE syndrome
@nl
prefLabel
Immunological abnormalities in CHARGE syndrome
@ast
Immunological abnormalities in CHARGE syndrome
@en
Immunological abnormalities in CHARGE syndrome
@en-gb
Immunological abnormalities in CHARGE syndrome
@nl
P2093
P921
P1476
Immunological abnormalities in CHARGE syndrome
@en
P2093
Catherine M Cale
Christine M Pierce
Karin Writzl
Louise C Wilson
Raoul C M Hennekam
P304
P356
10.1016/J.EJMG.2007.05.002
P407
P577
2007-01-01T00:00:00Z