223 results on '"Megarbane, Andre"'
Search Results
2. Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization
3. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
4. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
5. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
6. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
7. A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature
8. Genome sequencing in families with congenital limb malformations
9. CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy.
10. Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3
11. A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)
12. Mitochondrial DNA control region variation in Lebanon, Jordan, and Bahrain
13. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)
14. Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings
15. A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.
16. 19 POLD3 deficiency is associated with syndromic severe combined immunodeficiency including neurodevelopmental delay and hearing impairment
17. Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes
18. Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy
19. Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
20. First Report of A Lebanese Patient With TK2 Related Myopathic Syndrome
21. Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever
22. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay
23. CHAMP1 -Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature.
24. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
25. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity
26. Ex vivo PBMC cytokine profile in familial Mediterranean fever patients: Involvement of IL-1β, IL-1α and Th17-associated cytokines and decrease of Th1 and Th2 cytokines
27. Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy.
28. NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?
29. Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
30. How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
31. Noonan syndrome in diverse populations
32. Cover Image, Volume 173A, Number 9, September 2017
33. BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling.
34. PCDH19 in Males: Are Hemizygous Variants Linked to Autism?
35. Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation.
36. Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
37. Familial Mediterranean fever in a large Lebanese family: Multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation
38. Isolated Aldosterone Deficiency Due to an Aldosterone Synthase Mutation: A Rare Cause of Life-Threatening Salt Wasting in Infancy.
39. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
40. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features
41. Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.
42. Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye and cardiac abnormalities of Frank-Ter Haar syndrome
43. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
44. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
45. Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
46. Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease.
47. The global challenges of the long COVID-19 in adults and children
48. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia
49. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
50. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
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