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Mégarbané, A.
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1

PCDH19 in males: Are hemizygous variants linked to autism?:

Chouery, E. ; Makhlouf, J. ; Daoud Khatoun, W...
Clinica Chimica Acta.  558 (2024)  - p. 118292 , 2024
Link: https://doi.org/10.1016/..
 
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2

Indisputable vs. questionable actionable secondary findings..:

Hanna, E.M. ; Mehawej, C. ; Hoblos, Y....
Clinica Chimica Acta.  558 (2024)  - p. 118278 , 2024
Link: https://doi.org/10.1016/..
 
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3

A homozygous frameshift variant expands the clinical spectr..:

Mehawej, C. ; Ibrahim, M. ; Khalife, L....
Clinica Chimica Acta.  558 (2024)  - p. 118265 , 2024
Link: https://doi.org/10.1016/..
 
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4

POLD3 deficiency is associated with severe combined immunod..:

Mehawej, C. ; Chouery, E. ; Azar-Atallah, S....
Clinica Chimica Acta.  558 (2024)  - p. 118291 , 2024
Link: https://doi.org/10.1016/..
 
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5

Efficacy and safety of methylphenidate on attention deficit..:

Roche, M. ; Mircher, C. ; Toulas, J....
Journal of Intellectual Disability Research.  65 (2021)  8 - p. 795-800 , 2021
Link: https://doi.org/10.1111/..
 
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6

Feeding problems and gastrointestinal diseases in Down synd..:

Ravel, A. ; Mircher, C. ; Rebillat, A.-S...
Archives de Pédiatrie.  27 (2020)  1 - p. 53-60 , 2020
Link: https://doi.org/10.1016/..
 
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7

P006 Is Phoenician the origin N1303K CFTR mutation?:

Farhat, R. ; El Seedy, A. ; Corbani, S....
Journal of Cystic Fibrosis.  19 (2020)  - p. S56 , 2020
Link: https://doi.org/10.1016/..
 
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8

Homozygous mutation in ELMO2 may cause Ramon syndrome:

Mehawej, C. ; Hoischen, A. ; Farah, R.A....
Clinical Genetics.  93 (2018)  3 - p. 703-706 , 2018
Link: https://doi.org/10.1111/..
 
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9

SFCP P-059 - L'autre visage de la maladie de Hirschprung (A..:

Fadous Khalifé, M.C. ; Issa, I. ; Megarbane, A....
Archives de Pédiatrie.  21 (2014)  5 - p. 514 , 2014
Link: https://doi.org/10.1016/..
 
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10

Search for ReCQL4 mutations in 39 patients genotyped for su..:

Piard, J. ; Aral, B. ; Vabres, P....
Clinical Genetics.  87 (2014)  3 - p. 244-251 , 2014
Link: https://doi.org/10.1111/..
 
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11

Systematic molecular and cytogenetic screening of 100 patie..:

Callier, P ; Aral, B ; Hanna, N...
Clinical Genetics.  84 (2013)  6 - p. 507-521 , 2013
Link: https://doi.org/10.1111/..
 
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12

9 Detection of a novel complex allele c.[869+11C>T;3909C>G]..:

Farhat, R. ; Puissesseau, G. ; Pasquet, M.-C....
Journal of Cystic Fibrosis.  12 (2013)  - p. S50 , 2013
Link: https://doi.org/10.1016/..
 
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13

PW01-023 – Ex vivo PBMC cytokine profile in FMF patients:

Ibrahim, JN ; Jounblat, R ; Delwail, A...
Pediatric Rheumatology.  11 (2013)  S1 - p. , 2013
Link: https://doi.org/10.1186/..
 
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14

Epidemiology of Charcot-Marie-Tooth in Lebanon: Clinical, G..:

Jabbour, R. ; Koussa, S. ; Delague, V....
Neurology.  78 (2012)  Meeting Abstracts 1 - p. P05.150-P05.150 , 2012
Link: https://doi.org/10.1212/..
 
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15

Molecular screening of MECP2 gene in a cohort of Lebanese p..:

Corbani, S. ; Chouery, E. ; Fayyad, J....
Journal of Intellectual Disability Research.  56 (2011)  4 - p. 415-420 , 2011
Link: https://doi.org/10.1111/..
 
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