Suchergebnisse - "Megarbane, Andre"

PubPharm (91)

1

A Case of Leber Hereditary Optic Neuropathy Triggered by Pfizer-BioNTech Vaccine : Evidence of Pathogenesis of a Novel Mutation

enthalten in: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society | 2024

von Rizk, M. | Dunya, I. | Seif, R. | +2

2

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

3

Non-syndromic hypotrichosis : A report of two novel variants in the LSS gene

enthalten in: Pediatric dermatology | 2023

von El Hakim, J. | Mehawej, C. | Chouery, E. | +3

4

CHAMP1-Related Disorder : Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

enthalten in: Genes | 2023

von Abi Raad, S. | Yazbeck Karam, V. | Chouery, E. | +2

5

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

enthalten in: American journal of medical genetics. Part A | 2023

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

6

PCDH19 in Males : Are Hemizygous Variants Linked to Autism?

enthalten in: Genes | 2023

von Chouery, E. | Makhlouf, J. | Daoud Khatoun, W. | +2

7

NEK8-Associated Nephropathies : Do Autosomal Dominant Forms Exist?

enthalten in: Nephron | 2023

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

8

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

9

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

10

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.

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