Found: 13
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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
- By:
- 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
Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.
- Published in:
- Breast Cancer Research & Treatment, 2022, v. 194, n. 1, p. 187, doi. 10.1007/s10549-022-06622-3
- By:
- Publication type:
- Article
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-020-00861-3
- By:
- Publication type:
- Article
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01167-y
- By:
- Publication type:
- Article
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 2, p. 77, doi. 10.1159/000430970
- By:
- Publication type:
- Article
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
- Published in:
- BMC Oral Health, 2015, v. 15, n. 1, p. 1, doi. 10.1186/1472-6831-15-14
- By:
- Publication type:
- Article
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case.
- Published in:
- BMC Oral Health, 2015, v. 15, n. 1, p. 1, doi. 10.1186/1472-6831-15-14
- By:
- Publication type:
- Article
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
- Published in:
- BMC Oral Health, 2015, v. 15, n. 1, p. 1, doi. 10.1186/1472-6831-15-14
- By:
- Publication type:
- Article
Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population.
- Published in:
- BMC Genetics, 2014, v. 15, n. 1, p. 87, doi. 10.1186/s12863-014-0156-x
- By:
- Publication type:
- Article
Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report.
- Published in:
- 2014
- By:
- Publication type:
- journal article