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Cybel Mehawej

Showing results (41-50 of 54) with videos related to

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Bone|September 3, 2014
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasiaMarie-Hélène Gannagé-Yared, Periklis Makrythanasis, Eliane Chouery, et al.
The Journal of Allergy and Clinical Immunology|July 7, 2020
ITK deficiency presenting as autoimmune lymphoproliferative syndromeJacqueline G Wallace, Mohammed F Alosaimi, Claudia Djambas Khayat, et al.
Journal of Clinical Immunology|November 5, 2024
Endophilin A2 Deficiency Impairs Antibody Production in HumansCybel Mehawej, Eliane Chouery, Roula Farah, et al.
Plos Genetics|May 3, 2014
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaCybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variabilityCybel Mehawej, Jean-Benoît Courcet, Geneviève Baujat, et al.
Journal of Community Genetics|March 21, 2026
Consanguinity in the Lebanese population: knowledge, attitudes and practicesEliane Chouery, José-Noel Ibrahim, Mary E Deeb, et al.
European Journal of Human Genetics : EJHG|October 16, 2024
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairmentsEliane Chouery, Cybel Mehawej, Rami Saade, et al.
Hepatology (Baltimore, Md.)|August 22, 2022
Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family studyJingxuan Shan, André Megarbane, Aziz Chouchane, et al.
Journal of Neuromuscular Diseases|October 4, 2021
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International EffortAndre Megarbane, Sami Bizzari, Asha Deepthi, et al.
BMC Medical Genomics|January 23, 2019
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese populationNadine Jalkh, Sandra Corbani, Zahraa Haidar, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Bone|September 3, 2014
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasiaMarie-Hélène Gannagé-Yared, Periklis Makrythanasis, Eliane Chouery, et al.
The Journal of Allergy and Clinical Immunology|July 7, 2020
ITK deficiency presenting as autoimmune lymphoproliferative syndromeJacqueline G Wallace, Mohammed F Alosaimi, Claudia Djambas Khayat, et al.
Journal of Clinical Immunology|November 5, 2024
Endophilin A2 Deficiency Impairs Antibody Production in HumansCybel Mehawej, Eliane Chouery, Roula Farah, et al.
Plos Genetics|May 3, 2014
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaCybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variabilityCybel Mehawej, Jean-Benoît Courcet, Geneviève Baujat, et al.
Journal of Community Genetics|March 21, 2026
Consanguinity in the Lebanese population: knowledge, attitudes and practicesEliane Chouery, José-Noel Ibrahim, Mary E Deeb, et al.
European Journal of Human Genetics : EJHG|October 16, 2024
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairmentsEliane Chouery, Cybel Mehawej, Rami Saade, et al.
Hepatology (Baltimore, Md.)|August 22, 2022
Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family studyJingxuan Shan, André Megarbane, Aziz Chouchane, et al.
Journal of Neuromuscular Diseases|October 4, 2021
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International EffortAndre Megarbane, Sami Bizzari, Asha Deepthi, et al.
BMC Medical Genomics|January 23, 2019
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese populationNadine Jalkh, Sandra Corbani, Zahraa Haidar, et al.
Pageof 6