241 results on '"Ratbi, Ilham"'
Search Results
2. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
3. Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
4. 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
5. Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature
6. Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant.
7. Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
8. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
9. Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations
10. Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience
11. A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature
12. Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience
13. Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
14. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
15. Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.
16. Non lethal Raine syndrome and differential diagnosis
17. Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene
18. Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNAPathogenic Variant
19. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
20. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
21. Additional file 2 of Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
22. Additional file 1 of Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
23. Familial Gliomas: Role of TP53 Gene
24. Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
25. Marfanoid habitus is a nonspecific feature of Perrault syndrome
26. Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability
27. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)
28. Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
29. M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature
30. Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
31. Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
32. Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer
33. Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
34. High frequency of hotspotmutation in PTPN11gene among Moroccan patients with Noonan syndrome
35. Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
36. Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
37. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
38. First application of next-generation sequencing in patients with hypertrophic cardiomyopathy in Morocco and report of a novel frameshift mutation of MYBPC3 gene: Case report
39. Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
40. Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents
41. 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
42. Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.
43. Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.
44. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
45. Moroccan consanguineous family with Becker myotonia and review
46. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
47. Erratum: GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability (American Journal of Human Genetics (2016) 99(3) (704–710)(S0002929716302294)(10.1016/j.ajhg.2016.06.025))
48. Correction: GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
49. The moroccan human mutation database
50. Mowat-Wilson syndrome in a Moroccan consanguineous family
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