Suchergebnisse - "Mehawej, Cybel"

PubPharm (62)

1

ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review

enthalten in: The Egyptian journal of medical human genetics | 2024

von El Khatib, D. | Hojeij, M. | Sabbagh, S. | +5

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

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

4

G-quadruplex forming sequences in the genes coding for cytochrome P450 enzymes and their potential roles in drug metabolism

enthalten in: Biochimie | 2023

von Saad, M. | Zhang, R. | Cucchiarini, A. | +4

5

Analysis of G-quadruplex forming sequences in podocytes-marker genes and their potential roles in inherited glomerular diseases

enthalten in: Heliyon | 2023

von Saad, M. | Mehawej, C. | Faour, W.

6

Genetic profile of borderline ovarian tumors in the Lebanese population by whole-exome sequencing

enthalten in: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics | 2023

von Feghaly, I. | Kourie, H. | Moubarak, M. | +4

7

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

8

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

9

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

10

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

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