Search research articles
Contact Us
Filters
Showing results (11-20 of 54) with videos related to
Page
of 6
Sort By:
American Journal of Medical Genetics. Part A
|
December 24, 2022
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling
Eliane Chouery, Elio Tahan, Rim Karam, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2012
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
André Mégarbané, Nadine Hanna, Eliane Chouery, et al.
Clinical Immunology (Orlando, Fla.)
|
July 7, 2020
A family history of SCID and unrevealing WES: An approach to management and guidance of patients
Cybel Mehawej, Claudia Djambas Khayat, Nadine Hamdan, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
A second family with autosomal recessive spondylometaphyseal dysplasia and early death
André Mégarbané, Cybel Mehawej, Amir El Zahr, et al.
Plos One
|
July 18, 2025
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Eileen Marie Hanna, Cybel Mehawej, Yazid Hoblos, et al.
Genes
|
July 27, 2024
CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy
Cybel Mehawej, Joy El Maalouf, Mohamad Abdelkhalik, et al.
BMC Medical Genetics
|
September 12, 2018
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics
|
May 15, 2023
Genetic profile of borderline ovarian tumors in the Lebanese population by whole-exome sequencing
Iman Feghaly, Hampig Kourie, Malak Moubarak, et al.
Clinical Genetics
|
August 18, 2024
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases
Eliane Chouery, Cybel Mehawej, Aline Mansour, et al.
The Journal of Molecular Diagnostics : JMD
|
December 26, 2024
Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population
Eileen Marie Hanna, Cybel Mehawej, Joelle Assy, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 54) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
December 24, 2022
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling
Eliane Chouery, Elio Tahan, Rim Karam, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2012
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
André Mégarbané, Nadine Hanna, Eliane Chouery, et al.
Clinical Immunology (Orlando, Fla.)
|
July 7, 2020
A family history of SCID and unrevealing WES: An approach to management and guidance of patients
Cybel Mehawej, Claudia Djambas Khayat, Nadine Hamdan, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
A second family with autosomal recessive spondylometaphyseal dysplasia and early death
André Mégarbané, Cybel Mehawej, Amir El Zahr, et al.
Plos One
|
July 18, 2025
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Eileen Marie Hanna, Cybel Mehawej, Yazid Hoblos, et al.
Genes
|
July 27, 2024
CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy
Cybel Mehawej, Joy El Maalouf, Mohamad Abdelkhalik, et al.
BMC Medical Genetics
|
September 12, 2018
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics
|
May 15, 2023
Genetic profile of borderline ovarian tumors in the Lebanese population by whole-exome sequencing
Iman Feghaly, Hampig Kourie, Malak Moubarak, et al.
Clinical Genetics
|
August 18, 2024
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases
Eliane Chouery, Cybel Mehawej, Aline Mansour, et al.
The Journal of Molecular Diagnostics : JMD
|
December 26, 2024
Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population
Eileen Marie Hanna, Cybel Mehawej, Joelle Assy, et al.
Page
of 6