Concepedia

Lara El-Bazzal

LE

3

Publications

55

Citations

3

H-Index

2018

Active since

Affiliations

Aix-Marseille Université(Current)

Inserm

Fondation Jérôme-Lejeune

Lara El-Bazzal is an author at Aix-Marseille Université specializing in molecular genetics, clinical genetics, and developmental biology.

Top concepts

GeneticsMedicinePathologyClinical GeneticsMolecular GeneticsGenetic EpidemiologyDevelopmental Biology

Publications per year

2018–2022

3

Publications

3

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

Lara El-Bazzal, Khalil Rihan, Nathalie Bernard‐Marissal et al. · Human Molecular Genetics · 2019 · 34 citations · Full text

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

Lara El-Bazzal, Adeline Ghata, Clothilde Estève et al. · Brain · 2022 · 11 citations · Full text

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

Lara El-Bazzal, Alexandre Atkinson, Anne-Céline Gillart et al. · European Journal of Medical Genetics · 2018 · 10 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +11

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