Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
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Language Impairments in ASD Resulting from a Failed Domestication of the Human BrainCHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.CHARGE syndrome gastrointestinal involvement: from mouth to anus.Epigenetic Mistakes in Neurodevelopmental Disorders.Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome.Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease.Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.Guidelines in CHARGE syndrome and the missing link: Cranial imaging.Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.Reproductive endocrine phenotypes relating to CHD7 mutations in humans.New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.Genotype-phenotype correlations in individuals with pathogenic RERE variants.Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe.Atopic disorders in CHARGE syndrome: A retrospective study and literature review.Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.Duplication 2p25 in a child with clinical features of CHARGE syndrome.
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P2860
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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name
Atypical phenotypes associated ...... clinical diagnostic criteria.
@en
Atypical phenotypes associated ...... clinical diagnostic criteria.
@nl
type
label
Atypical phenotypes associated ...... clinical diagnostic criteria.
@en
Atypical phenotypes associated ...... clinical diagnostic criteria.
@nl
prefLabel
Atypical phenotypes associated ...... clinical diagnostic criteria.
@en
Atypical phenotypes associated ...... clinical diagnostic criteria.
@nl
P2093
P2860
P356
P1476
Atypical phenotypes associated ...... clinical diagnostic criteria.
@en
P2093
Adrienne N Niederriter
Caitlin L Hale
Donna M Martin
Glenn E Green
P2860
P304
P356
10.1002/AJMG.A.37435
P407
P577
2015-11-21T00:00:00Z