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Genes
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February 25, 2023
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation
Eliane Chouery, Rim Karam, Yves Najm Mrad, et al.
European Journal of Medical Genetics
|
February 2, 2020
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3
Sami Bizzari, Lara El-Bazzal, Pratibha Nair, et al.
Clinical Genetics
|
October 13, 2023
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects
Cybel Mehawej, Maroun Ibrahim, Lynn Khalife, et al.
Oncology Reviews
|
November 29, 2023
Genetic Polymorphisms Involved in Bladder Cancer: A Global Review
Hampig Raphael Kourie, Joseph Zouein, Bahaa Succar, et al.
BMC Medical Genomics
|
July 21, 2021
Molecular profiling of basal cell carcinomas in young patients
Marc Abi Karam, Hampig Raphael Kourie, Nadine Jalkh, et al.
Molecular Syndromology
|
June 16, 2023
Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
Cybel Mehawej, Eliane Chouery, Ghada Al Hage Chehade, et al.
European Journal of Medical Genetics
|
November 19, 2015
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay
José-Mario Capo-Chichi, Cybel Mehawej, Valerie Delague, et al.
BMC Medical Genomics
|
October 17, 2022
Genetic susceptibility of bladder cancer in the Lebanese population
Hampig Raphael Kourie, Bahaa Succar, Eliane Chouery, et al.
American Journal of Medical Genetics. Part A
|
April 6, 2011
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome
André Mégarbané, Eliane Chouery, Cécile Mignon-Ravix, et al.
Molecular Syndromology
|
August 7, 2025
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
Pratibha Nair, Sami Bizzari, Cybel Mehawej, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 54) with videos related to
Sort By:
Page
of 6
Genes
|
February 25, 2023
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation
Eliane Chouery, Rim Karam, Yves Najm Mrad, et al.
European Journal of Medical Genetics
|
February 2, 2020
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3
Sami Bizzari, Lara El-Bazzal, Pratibha Nair, et al.
Clinical Genetics
|
October 13, 2023
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects
Cybel Mehawej, Maroun Ibrahim, Lynn Khalife, et al.
Oncology Reviews
|
November 29, 2023
Genetic Polymorphisms Involved in Bladder Cancer: A Global Review
Hampig Raphael Kourie, Joseph Zouein, Bahaa Succar, et al.
BMC Medical Genomics
|
July 21, 2021
Molecular profiling of basal cell carcinomas in young patients
Marc Abi Karam, Hampig Raphael Kourie, Nadine Jalkh, et al.
Molecular Syndromology
|
June 16, 2023
Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
Cybel Mehawej, Eliane Chouery, Ghada Al Hage Chehade, et al.
European Journal of Medical Genetics
|
November 19, 2015
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay
José-Mario Capo-Chichi, Cybel Mehawej, Valerie Delague, et al.
BMC Medical Genomics
|
October 17, 2022
Genetic susceptibility of bladder cancer in the Lebanese population
Hampig Raphael Kourie, Bahaa Succar, Eliane Chouery, et al.
American Journal of Medical Genetics. Part A
|
April 6, 2011
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome
André Mégarbané, Eliane Chouery, Cécile Mignon-Ravix, et al.
Molecular Syndromology
|
August 7, 2025
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
Pratibha Nair, Sami Bizzari, Cybel Mehawej, et al.
Page
of 6