Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

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http://www.wikidata.org/entity/Q55058897
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi SyndromeEP300 contributes to high-altitude adaptation in Tibetans by regulating nitric oxide production.First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.Hdac3 Interaction with p300 Histone Acetyltransferase Regulates the Oligodendrocyte and Astrocyte Lineage Fate SwitchWhole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Chromatin remodeling and epigenetic regulation of oligodendrocyte myelination and myelin repair.Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
P2860

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

Item
http://www.wikidata.org/entity/Q55058897
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
@en
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
@nl
type
label
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
@en
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
@nl
prefLabel
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
@en
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698