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Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 125, doi. 10.1159/000534432
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- Publication type:
- Article
Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
First application of next-generation sequencing in four families with Wilson disease in Morocco.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00437-7
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- Publication type:
- Article
Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00416-y
- By:
- Publication type:
- Article
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article