Found: 6
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KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 2, p. 332, doi. 10.1002/ana.26662
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- Publication type:
- Article
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
An Atypical Case of Congenital Erythropoietic Porphyria.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1828, doi. 10.3390/genes12111828
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- Publication type:
- Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
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- Publication type:
- Article
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1882, doi. 10.1002/humu.24438
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- Publication type:
- Article
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.
- Published in:
- 2020
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- Publication type:
- journal article