Found: 27
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Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. D1, p. D1020, doi. 10.1093/nar/gkt1125
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- Publication type:
- Article
Moroccan consanguineous family with Becker myotonia and review.
- Published in:
- Annals of Indian Academy of Neurology, 2011, v. 14, n. 4, p. 307, doi. 10.4103/0972-2327.91963
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- Publication type:
- Article
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.
- Published in:
- 2022
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- Publication type:
- journal article
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.
- Published in:
- 2014
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- Publication type:
- Case Study
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00959-2
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- Publication type:
- Article
Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
- Published in:
- 2018
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- Publication type:
- Correction Notice
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
- Published in:
- 2010
- By:
- Publication type:
- Report
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.
- Published in:
- Annals of Saudi Medicine, 2015, v. 35, n. 2, p. 170, doi. 10.5144/0256-4947.2015.170
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- Publication type:
- Article
Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 377, doi. 10.3390/genes15030377
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- Publication type:
- Article
Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.
- Published in:
- 2021
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- Publication type:
- Case Study
Syndrome de Silver Russell: à propos de 3 cas et revue de la littérature.
- Published in:
- Pan African Medical Journal, 2013, v. 14, p. 1, doi. 10.11604/pamj.2013.14.91.1645
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- Publication type:
- Article
First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene.
- Published in:
- Oncology Letters, 2016, v. 12, n. 2, p. 1192, doi. 10.3892/ol.2016.4739
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- Publication type:
- Article
Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation.
- Published in:
- 2018
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- Publication type:
- Case Study
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
- Published in:
- Human Reproduction, 2007, v. 22, n. 5, p. 1285, doi. 10.1093/humrep/dem024
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- Publication type:
- Article
Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.
- Published in:
- 2018
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- Publication type:
- journal 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
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- Publication type:
- Article
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
- Published in:
- 2013
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- Publication type:
- Journal Article
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 882, doi. 10.1093/brain/awt013
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- 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
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- Publication type:
- Article
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
A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 1, p. 44, doi. 10.1159/000371590
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- Publication type:
- Article
High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control.
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- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-2511-2
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- 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
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- Publication type:
- Article
A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1331676
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- Publication type:
- Article
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.
- Published in:
- African Health Sciences, 2021, v. 21, n. 2, p. 960, doi. 10.4314/ahs.v21i2.58
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- Publication type:
- Article
Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.
- Published in:
- African Health Sciences, 2014, v. 14, n. 2, p. 468, doi. 10.4314/ahs.v14i2.25
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- Publication type:
- Article
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08547-w
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- Publication type:
- Article