Suchergebnisse - "Megarbane, Andre"

PubPharm (157)

1

A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects

enthalten in: Clinical genetics | 2024

von Mehawej, C. | Ibrahim, M. | Khalife, L. | +6

2

Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization

enthalten in: Clinical epigenetics | 2023

von Bejaoui, Y. | Humaira Amanullah, F. | Saad, M. | +6

3

POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment

enthalten in: Clinical immunology (Orlando, Fla.) | 2023

von Mehawej, C. | Chouery, E. | Azar-Atallah, S. | +6

4

Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy

enthalten in: Human molecular genetics | 2023

von Qannan, A. | Bejaoui, Y. | Izadi, M. | +11

5

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H

enthalten in: Brain : a journal of neurology | 2023

von El-Bazzal, L. | Ghata, A. | Estève, C. | +14

6

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

7

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

8

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

9

NEK8-Associated Nephropathies : Do Autosomal Dominant Forms Exist?

enthalten in: Nephron | 2023

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

10

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

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