Suchergebnisse - "Megarbane, Andre"

PubPharm (82)

1

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype

enthalten in: European journal of medical genetics | 2024

von Mégarbané, A. | Mehawej, C. | Mahfoud, D. | +6

2

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

3

Epigenetic Age Acceleration in Surviving versus Deceased COVID-19 Patients with Acute Respiratory Distress Syndrome following Hospitalization

enthalten in: bioRxiv.org | 2024

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

4

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

enthalten in: Molecular genetics and metabolism | 2024

von Hammann, N. | Lenz, D. | Baric, I. | +32

5

Altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation are key pathomechanisms in VRK1-related motor neuropathies and motor neuron diseases

enthalten in: bioRxiv.org | 2024

von Hamzé, Z. | Humbert, C. | Rihan, K. | +9

6

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

7

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

8

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

9

Positive impact of sulfamethoxazole-trimethoprim prophylaxis on prevention of severe infections in a patient with glycogen storage disease type Ib

enthalten in: Journal of Rare Diseases | 2023

von Khalil, M. | Fata, A. | Diab, E. | +3

10

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

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