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Lara El-Bazzal
AD Scientific Index 2024
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American University of Beirut - Beirut / Lebanon
الجامعة الاميركية في بيروت
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Lara El-Bazzal's MOST POPULAR ARTICLES
1-)
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 162019
2-)
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 102019
3-)
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 82020
4-)
Further delineation of the TRAPPC6B disorder: Report on a new family and reviewP Nair, L El-Bazzal, H Mansour, S Sabbagh, MT Al-Ali, A Gambarini, ...Journal of pediatric genetics 8 (04), 252-256, 201952019
5-)
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, 201952019
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