| Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1 L El-Bazzal, K Rihan, N Bernard-Marissal, C Castro, E Chouery-Khoury, ... Human molecular genetics 28 (14), 2378-2394, 2019 | 21 | 2019 |
| A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum … L El-Bazzal, A Atkinson, AC Gillart, M Obeid, V Delague, A Mégarbané European journal of medical genetics 62 (4), 259-264, 2019 | 14 | 2019 |
| Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3 S Bizzari, L El-Bazzal, P Nair, A Younan, S Stora, C Mehawej, S El-Hayek, ... European journal of medical genetics 63 (5), 103869, 2020 | 13 | 2020 |
| Further delineation of the TRAPPC6B disorder: Report on a new family and review P Nair, L El-Bazzal, H Mansour, S Sabbagh, MT Al-Ali, A Gambarini, ... Journal of pediatric genetics 8 (04), 252-256, 2019 | 6 | 2019 |
| A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) A Mégarbané, G Hmaimess, S Bizzari, L El-Bazzal, MT Al-Ali, S Stora, ... European journal of medical genetics 62 (11), 103576, 2019 | 5 | 2019 |
| Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1 R Bos, K Rihan, L El-Bazzal, N Bernard-Marissal, P Quintana, R Jabbour, ... bioRxiv, 2021 | 4 | 2021 |
| Etude des mécanismes physiopathologiques des neuropathies périphériques dues à des mutations dans FRABIN (CMT4H) et VRK1 L El Bazzal Aix-Marseille, 2018 | | 2018 |
| NEW MISSENSE MUTATIONS IN THE VACCINIA-RELATED KINASE 1 GENE ARE ASSOCIATED WITH AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE L El-Bazzal, C Castro, N Roëckel-Trevisiol, JP Desvignes, A Mégarbané, ... Journal of the Peripheral Nervous System 21 (3), 251-252, 2016 | | 2016 |
