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Bone
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September 3, 2014
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia
Marie-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 syndrome
Jacqueline G Wallace, Mohammed F Alosaimi, Claudia Djambas Khayat, et al.
Journal of Clinical Immunology
|
November 5, 2024
Endophilin A2 Deficiency Impairs Antibody Production in Humans
Cybel 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 dysplasia
Cybel 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 variability
Cybel Mehawej, Jean-Benoît Courcet, Geneviève Baujat, et al.
Journal of Community Genetics
|
March 21, 2026
Consanguinity in the Lebanese population: knowledge, attitudes and practices
Eliane 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 impairments
Eliane 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 study
Jingxuan 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 Effort
Andre 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 population
Nadine Jalkh, Sandra Corbani, Zahraa Haidar, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 54) with videos related to
Sort By:
Page
of 6
Bone
|
September 3, 2014
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia
Marie-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 syndrome
Jacqueline G Wallace, Mohammed F Alosaimi, Claudia Djambas Khayat, et al.
Journal of Clinical Immunology
|
November 5, 2024
Endophilin A2 Deficiency Impairs Antibody Production in Humans
Cybel 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 dysplasia
Cybel 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 variability
Cybel Mehawej, Jean-Benoît Courcet, Geneviève Baujat, et al.
Journal of Community Genetics
|
March 21, 2026
Consanguinity in the Lebanese population: knowledge, attitudes and practices
Eliane 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 impairments
Eliane 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 study
Jingxuan 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 Effort
Andre 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 population
Nadine Jalkh, Sandra Corbani, Zahraa Haidar, et al.
Page
of 6