466 results on '"Sefiani, Abdelaziz"'
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2. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
3. A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description
4. Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
5. First application of next-generation sequencing in four families with Wilson disease in Morocco
6. Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
7. Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant
8. Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia
9. 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
10. Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
11. Investigation of bacterial diversity using 16S rRNA sequencing and prediction of its functionalities in Moroccan phosphate mine ecosystem
12. Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report.
13. A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature
14. Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations
15. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
16. Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
17. 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review
18. Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
19. Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.
20. Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome
21. Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency
22. Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
23. Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome
24. Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.
25. Non lethal Raine syndrome and differential diagnosis
26. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
27. Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene
28. Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNAPathogenic Variant
29. Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series
30. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
31. Additional file 2 of Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
32. Additional file 1 of Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
33. Genetic Disorders in Morocco
34. A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence
35. Autosomal recessive primary microcephaly due to ASPM mutations: An update
36. Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
37. A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
38. Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
39. A novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report
40. Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
41. Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability
42. Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature
43. Marfanoid habitus is a nonspecific feature of Perrault syndrome
44. Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2–p13.12/13 deletion
45. M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature
46. Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
47. Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
48. Outcome associated with prescription of cardiac rehabilitation according to predicted risk after acute myocardial infarction: Insights from the FAST-MI registries
49. 16S Metagenomics investigation of Bacterial diversity and prediction of its functionalities in Moroccan phosphate mine ecosystem.
50. Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
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