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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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- Article
Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa.
- Published in:
- Cardiology in the Young, 2007, v. 17, n. 1, p. 107, doi. 10.1017/S1047951106001338
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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.
- Published in:
- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-2511-2
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- Article
Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation.
- Published in:
- 2018
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- Publication type:
- Case Study
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
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
MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
- Published in:
- Rheumatology International, 2012, v. 32, n. 4, p. 981, doi. 10.1007/s00296-010-1732-7
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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
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 7, p. 1301, doi. 10.1093/hmg/ddp029
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- Publication type:
- 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 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
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
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
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
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
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
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
Genetic structure of north-west Africa revealed by STR analysis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 360, doi. 10.1038/sj.ejhg.5200464
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- Publication type:
- Article
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
Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 119, n. 1, p. 70, doi. 10.1046/j.1523-1747.2002.01809.x
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- Publication type:
- Article
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 454, doi. 10.1038/ng1993
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- Publication type:
- Article
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
- Published in:
- Nature Genetics, 2003, v. 35, n. 4, p. 313, doi. 10.1038/ng1264
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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
Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2024, v. 44, n. 1, p. 110, doi. 10.3343/alm.2024.44.1.110
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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 single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal 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
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
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
A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09829-3
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- 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
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- Publication type:
- 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
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
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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- Publication type:
- Article
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
20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
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
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
Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder.
- Published in:
- Journal of Biomedicine & Biotechnology, 2007, p. 1, doi. 10.1155/2007/61538
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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
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
- By:
- Publication type:
- journal article
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
- By:
- Publication type:
- journal article
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report.
- Published in:
- 2014
- By:
- 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:
- 2013
- By:
- 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