Suchergebnisse - "Megarbane, Andre"

PubPharm (489)

41

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates

enthalten in: Nature genetics | 2022

von Szenker-Ravi, E. | Ott, T. | Khatoo, M. | +38

ErratumIn: Nat Genet. 2022 Jun;54(6):906. - PMID 35304595

42

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon : An International Effort

enthalten in: Journal of neuromuscular diseases | 2022

von Megarbane, A. | Bizzari, S. | Deepthi, A. | +20

43

A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature

enthalten in: Neurogenetics | 2022

von Chouery, E. | Mehawej, C. | Megarbane, A.

44

A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature

enthalten in: Neurogenetics | 2022

von Chouery, E. | Mehawej, C. | Megarbane, A.

45

DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome

enthalten in: Aging Cell | 2022

von Bejaoui, Y. | Razzaq, A. | Yousri, N. | +10

46

Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities

enthalten in: Clinical Genetics | 2022

von Alawbathani, S. | Westenberger, A. | Ordonez‐Herrera, N. | +24

47

Early infantile epileptic encephalopathy related to NECAP1 : Clinical delineation of the disease and review

enthalten in: European Journal of Neurology | 2022

von Chouery, E. | Mehawej, C. | Sabbagh, S. | +2

48

Raine syndrome : Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

enthalten in: Prenatal Diagnosis | 2022

von Rameh, G. | Megarbane, A. | Jalbout, L. | +4

49

Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings

enthalten in: Advances in skin & wound care | 2021

von Hajjar, N. | Kabbani, M. | Tannous, R. | +4

50

Correction : Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Roux, T. | Barbier, M. | Papin, M. | +93

ErratumFor: Genet Med. 2020 Nov;22(11):1851-1862. - PMID 32713943