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Cybel Mehawej

Showing results (1-10 of 54) with videos related to

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Frontiers in Genetics|April 2, 2020
Actionable Exomic Secondary Findings in 280 Lebanese ParticipantsNadine Jalkh, Cybel Mehawej, Eliane Chouery
Neurogenetics|January 18, 2022
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literatureEliane Chouery, Cybel Mehawej, Andre Megarbane
Heliyon|October 9, 2023
Analysis of G-quadruplex forming sequences in podocytes-marker genes and their potential roles in inherited glomerular diseasesMona Saad, Cybel Mehawej, Wissam H Faour
Methodsx|October 17, 2022
New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)Mona Saad, Marc Shebaby, Cybel Mehawej, et al.
European Journal of Neurology|May 31, 2022
Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and reviewEliane Chouery, Cybel Mehawej, Sandra Sabbagh, et al.
Nephron|October 10, 2022
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?Cybel Mehawej, Eliane Chouery, Ramy Ghabril, et al.
Genes|March 29, 2023
<i>PCDH19</i> in Males: Are Hemizygous Variants Linked to Autism?Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, et al.
Neurology. Genetics|April 29, 2016
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathiesMarta Romani, Cybel Mehawej, Tommaso Mazza, et al.
Clinical Immunology (Orlando, Fla.)|May 4, 2020
DNMT3B deficiency presenting as severe combined immune deficiency: A case reportCybel Mehawej, Hassan Khalife, Rima Hanna-Wakim, et al.
Genes|August 26, 2023
<i>CHAMP1</i>-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the LiteratureSarah Abi Raad, Vanda Yazbeck Karam, Eliane Chouery, et al.
Pageof 6

Showing results (1-10 of 54) with videos related to

Sort By:
Pageof 6
Frontiers in Genetics|April 2, 2020
Actionable Exomic Secondary Findings in 280 Lebanese ParticipantsNadine Jalkh, Cybel Mehawej, Eliane Chouery
Neurogenetics|January 18, 2022
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literatureEliane Chouery, Cybel Mehawej, Andre Megarbane
Heliyon|October 9, 2023
Analysis of G-quadruplex forming sequences in podocytes-marker genes and their potential roles in inherited glomerular diseasesMona Saad, Cybel Mehawej, Wissam H Faour
Methodsx|October 17, 2022
New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)Mona Saad, Marc Shebaby, Cybel Mehawej, et al.
European Journal of Neurology|May 31, 2022
Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and reviewEliane Chouery, Cybel Mehawej, Sandra Sabbagh, et al.
Nephron|October 10, 2022
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?Cybel Mehawej, Eliane Chouery, Ramy Ghabril, et al.
Genes|March 29, 2023
<i>PCDH19</i> in Males: Are Hemizygous Variants Linked to Autism?Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, et al.
Neurology. Genetics|April 29, 2016
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathiesMarta Romani, Cybel Mehawej, Tommaso Mazza, et al.
Clinical Immunology (Orlando, Fla.)|May 4, 2020
DNMT3B deficiency presenting as severe combined immune deficiency: A case reportCybel Mehawej, Hassan Khalife, Rima Hanna-Wakim, et al.
Genes|August 26, 2023
<i>CHAMP1</i>-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the LiteratureSarah Abi Raad, Vanda Yazbeck Karam, Eliane Chouery, et al.
Pageof 6