Suchergebnisse - "Megarbane, Andre"

PubPharm (489)

21

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

enthalten in: Molecular psychiatry | 2023

von Palmer, E. | Pusch, M. | Picollo, A. | +96

22

Spondyloocular Syndrome : A Report of an Additional Family and Phenotypic Spectrum Delineation

enthalten in: Genes | 2023

von Chouery, E. | Karam, R. | Mrad, Y. | +5

23

Genetic predisposition to porto-sinusoidal vascular disorder : A functional genomic-based, multigenerational family study

enthalten in: Hepatology (Baltimore, Md.) | 2023

von Shan, J. | Megarbane, A. | Chouchane, A. | +17

24

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von van Jaarsveld, R. | Reilly, J. | Cornips, M. | +56

25

NEK8-Associated Nephropathies : Do Autosomal Dominant Forms Exist?

enthalten in: Nephron | 2023

von Mehawej, C. | Chouery, E. | Ghabril, R. | +2

26

DNA methylation profiling in Trisomy 21 females with and without breast cancer

enthalten in: Frontiers in oncology | 2023

von Bejaoui, Y. | Alresheq, S. | Durand, S. | +5

27

BHLHA9 homozygous duplication in a consanguineous family : A challenge for genetic counseling

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2023

von Chouery, E. | Tahan, E. | Karam, R. | +3

28

Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome : A Clinically Delineated Disease Yet of an Unknown Origin!

enthalten in: Molecular syndromology | 2023

von Mehawej, C. | Chouery, E. | Al Hage Chehade, G. | +6

29

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

enthalten in: JAMA neurology | 2022

von McKnight, D. | Morales, A. | Hatchell, K. | +98

CommentIn: JAMA Neurol. 2022 Dec 1;79(12):1227-1228. - PMID 36315117

30

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