Suchergebnisse - "Megarbane, Andre"

PubPharm (489)

31

Publisher Correction : 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

ErratumFor: Nat Genet. 2022 Jan;54(1):62-72. - PMID 34903892

32

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

enthalten in: Journal of medical genetics | 2022

von Laquerriere, A. | Jaber, D. | Abiusi, E. | +88

33

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

enthalten in: bioRxiv.org | 2022

von Bos, R. | Rihan, K. | El-Bazzal, L. | +7

34

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

35

Three Complex alleles associated with N1303K mutation and their molecular consequences

enthalten in: Cellular and molecular biology (Noisy-le-Grand, France) | 2022

von Farhat, R. | El-Seedy, A. | Pasquet, M. | +4

36

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.

37

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

enthalten in: Neurobiology of disease | 2022

von Bos, R. | Rihan, K. | Quintana, P. | +8

38

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

39

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

enthalten in: Aging cell | 2022

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

CommentIn: Aging (Albany NY). 2023 Aug 5;15(15):7336-7337. - PMID 37552095

40

Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H

enthalten in: bioRxiv.org | 2022

von El-Bazzal, L. | Ghata, A. | Estève, C. | +12