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Eliane Chouery

Showing results (1-10 of 120) with videos related to

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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
American Journal of Medical Genetics. Part A|June 17, 2008
A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genesAndré Mégarbané, Eliane Chouery, Ismat Ghanem
Frontiers in Genetics|April 2, 2020
Actionable Exomic Secondary Findings in 280 Lebanese ParticipantsNadine Jalkh, Cybel Mehawej, Eliane Chouery
American Journal of Medical Genetics. Part A|January 6, 2005
A new autosomal recessive oto-facial syndrome with midline malformationsAndré Mégarbané, Eliane Chouery, Simon Rassi, et al.
American Journal of Medical Genetics. Part A|May 11, 2017
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformationNancy Choucair, Mariam Rajab, André Mégarbané, et al.
American Journal of Medical Genetics|May 7, 2002
Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibsAndré Mégarbané, Joseph H Hersh, Eliane Chouery, et al.
Nephron|October 10, 2022
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?Cybel Mehawej, Eliane Chouery, Ramy Ghabril, 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.
Pharmacogenomics|August 18, 2020
Whole-exome and whole-genome sequencing in chronic lymphocytic leukemia: new biomarkers to targetCharbel Hobeika, Gaelle Rached, Alain Chebly, et al.
BMC Medical Genetics|June 11, 2010
1Novel MEFV transcripts in Familial Mediterranean fever patients and controlsMyrna Medlej-Hashim, Nancy Nehme, Eliane Chouery, et al.
Pageof 12

Showing results (1-10 of 120) with videos related to

Sort By:
Pageof 12
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
American Journal of Medical Genetics. Part A|June 17, 2008
A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genesAndré Mégarbané, Eliane Chouery, Ismat Ghanem
Frontiers in Genetics|April 2, 2020
Actionable Exomic Secondary Findings in 280 Lebanese ParticipantsNadine Jalkh, Cybel Mehawej, Eliane Chouery
American Journal of Medical Genetics. Part A|January 6, 2005
A new autosomal recessive oto-facial syndrome with midline malformationsAndré Mégarbané, Eliane Chouery, Simon Rassi, et al.
American Journal of Medical Genetics. Part A|May 11, 2017
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformationNancy Choucair, Mariam Rajab, André Mégarbané, et al.
American Journal of Medical Genetics|May 7, 2002
Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibsAndré Mégarbané, Joseph H Hersh, Eliane Chouery, et al.
Nephron|October 10, 2022
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?Cybel Mehawej, Eliane Chouery, Ramy Ghabril, 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.
Pharmacogenomics|August 18, 2020
Whole-exome and whole-genome sequencing in chronic lymphocytic leukemia: new biomarkers to targetCharbel Hobeika, Gaelle Rached, Alain Chebly, et al.
BMC Medical Genetics|June 11, 2010
1Novel MEFV transcripts in Familial Mediterranean fever patients and controlsMyrna Medlej-Hashim, Nancy Nehme, Eliane Chouery, et al.
Pageof 12