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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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- 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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- Article
Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.
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- Annals of Laboratory Medicine, 2024, v. 44, n. 1, p. 110, doi. 10.3343/alm.2024.44.1.110
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- Article
Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.
- Published in:
- 2023
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- 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
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- Article
Investigation of bacterial diversity using 16S rRNA sequencing and prediction of its functionalities in Moroccan phosphate mine ecosystem.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-07765-5
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- 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
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
Investigation of bacterial diversity using 16S rRNA sequencing and prediction of its functionalities in Moroccan phosphate mine ecosystem.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-07765-5
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- Publication type:
- Article
15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01121-5
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- 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
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
Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.
- Published in:
- Pan African Medical Journal, 2021, v. 39, p. 1, doi. 10.11604/pamj.2021.39.72.27220
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- Article
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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- 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
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- 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
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- 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
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- Publication type:
- journal article
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 6, p. 2822, doi. 10.1093/nar/gkz005
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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
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation.
- Published in:
- 2018
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- Publication type:
- Case Study
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
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- Publication type:
- journal 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
A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.
- Published in:
- 2018
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- Publication type:
- Case Study
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.
- Published in:
- Pediatric Rheumatology, 2017, v. 15, p. 1, doi. 10.1186/s12969-017-0200-2
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- Publication type:
- Article
A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.
- Published in:
- 2017
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- Publication type:
- journal 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.
- Published in:
- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-2511-2
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- Publication type:
- Article
Associations between Clinical Characteristics and Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism in Moroccan Population with Type-2 Diabetic Nephropathy.
- Published in:
- Saudi Journal of Kidney Diseases & Transplantation, 2017, v. 28, n. 2, p. 261, doi. 10.4103/1319-2442.202792
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- Publication type:
- Article
Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion.
- Published in:
- American Journal of Hematology, 2017, v. 92, n. 1, p. E2, doi. 10.1002/ajh.24574
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- Publication type:
- Article
Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2462, doi. 10.1002/ajmg.a.37839
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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
Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report.
- Published in:
- 2016
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- Publication type:
- journal article
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 460, doi. 10.1002/ajmg.a.37426
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- Publication type:
- Article
20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature.
- Published in:
- 2016
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- Publication type:
- Case Study
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
- Published in:
- 2015
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- Publication type:
- journal article
A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report.
- Published in:
- 2015
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- Publication type:
- journal article
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 957, doi. 10.1038/ejhg.2014.213
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- Publication type:
- Article
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
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- 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
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- 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
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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
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
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- Publication type:
- 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
A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-40
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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
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