484 results on '"Sefiani, Abdelaziz"'
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2. A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description
3. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
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. 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
8. Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature
9. Novel variant related to SATB2‐associated syndrome.
10. Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant.
11. Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
12. Investigation of bacterial diversity using 16S rRNA sequencing and prediction of its functionalities in Moroccan phosphate mine ecosystem
13. Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia
14. Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report
15. Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
16. Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations
17. A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature
18. Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
19. 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review
20. Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
21. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
22. Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency
23. Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome
24. Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome
25. Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
26. Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.
27. Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.
28. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
29. Non lethal Raine syndrome and differential diagnosis
30. Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene
31. Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNAPathogenic Variant
32. Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series
33. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
34. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
35. Additional file 2 of Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
36. Additional file 1 of Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
37. Genetic Disorders in Morocco
38. Autosomal recessive primary microcephaly due to ASPM mutations: An update
39. Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
40. A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
41. Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
42. A novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report
43. Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
44. Marfanoid habitus is a nonspecific feature of Perrault syndrome
45. Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2–p13.12/13 deletion
46. Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability
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. M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature
50. Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
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