Found: 12
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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0176516
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- Article
Novel compound heterozygous mutations in the GPR98 ( USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.
- Published in:
- Molecular Biology Reports, 2017, v. 44, n. 5, p. 429, doi. 10.1007/s11033-017-4129-9
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- Article
A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the<bold><italic> R-spondin1 </italic></bold>Gene Associated with Familial 46,XX DSD.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 269, doi. 10.1159/000485393
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- Article
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.
- Published in:
- Biochemical Genetics, 2024, v. 62, n. 3, p. 1914, doi. 10.1007/s10528-023-10515-5
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- Article
Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients.
- Published in:
- BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1040-4
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- Article
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. E2441, doi. 10.1002/humu.22835
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- Article
Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.
- Published in:
- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-3042-6
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- Article
A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
- Published in:
- 2015
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- Publication type:
- journal article
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 3, p. 187, doi. 10.1007/s10875-016-0251-z
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- Article
A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis.
- Published in:
- Human Heredity, 2019, v. 84, n. 6, p. 272, doi. 10.1159/000510062
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- Publication type:
- Article
Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness.
- Published in:
- Human Heredity, 2019, v. 84, n. 3, p. 109, doi. 10.1159/000503450
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- Publication type:
- Article
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138072
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- Publication type:
- Article