Found: 7
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Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
- Published in:
- 2021
- By:
- Publication type:
- journal article
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
- Published in:
- 2020
- By:
- Publication type:
- journal article
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49032-0
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- Publication type:
- Article
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80755-7
- By:
- Publication type:
- Article
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2793, doi. 10.1002/ajmg.a.61826
- By:
- Publication type:
- Article