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Eissa Faqeih

Showing results (21-30 of 88) with videos related to

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American Journal of Medical Genetics. Part A|May 8, 2021
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findingsAziza M Mushiba, Eissa Faqeih, Mohammed A Saleh, et al.
American Journal of Human Genetics|August 9, 2011
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndromeRanad Shaheen, Eissa Faqeih, Asma Sunker, et al.
Journal of Child Neurology|December 4, 2009
Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literatureZuhair N Al-Hassnan, Hesham Al Dhalaan, Zoltan Patay, et al.
Human Genome Variation|April 16, 2016
The many faces of KIF7Duna Barakeh, Eissa Faqeih, Shams Anazi, et al.
American Journal of Medical Genetics. Part A|December 31, 2025
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic SpectrumAmal AlHashem, Hanan AlQudairy, Jana Raed, et al.
Orphanet Journal of Rare Diseases|May 1, 2016
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPDSylvie Picker-Minh, Cyril Mignot, Diane Doummar, et al.
Human Genetics|July 27, 2021
ZNF668 deficiency causes a recognizable disorder of DNA damage repairHessa S Alsaif, Hatoon Al Ali, Eissa Faqeih, et al.
Genome Research|January 7, 2014
Genomic analysis of primordial dwarfism reveals novel disease genesRanad Shaheen, Eissa Faqeih, Shinu Ansari, et al.
JIMD Reports|October 6, 2017
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase DeficiencyAbdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, et al.
Frontiers in Genetics|June 1, 2022
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi PatientsMajid Alfadhel, Basma Abadel, Hind Almaghthawi, et al.
Pageof 9

Showing results (21-30 of 88) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|May 8, 2021
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findingsAziza M Mushiba, Eissa Faqeih, Mohammed A Saleh, et al.
American Journal of Human Genetics|August 9, 2011
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndromeRanad Shaheen, Eissa Faqeih, Asma Sunker, et al.
Journal of Child Neurology|December 4, 2009
Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literatureZuhair N Al-Hassnan, Hesham Al Dhalaan, Zoltan Patay, et al.
Human Genome Variation|April 16, 2016
The many faces of KIF7Duna Barakeh, Eissa Faqeih, Shams Anazi, et al.
American Journal of Medical Genetics. Part A|December 31, 2025
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic SpectrumAmal AlHashem, Hanan AlQudairy, Jana Raed, et al.
Orphanet Journal of Rare Diseases|May 1, 2016
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPDSylvie Picker-Minh, Cyril Mignot, Diane Doummar, et al.
Human Genetics|July 27, 2021
ZNF668 deficiency causes a recognizable disorder of DNA damage repairHessa S Alsaif, Hatoon Al Ali, Eissa Faqeih, et al.
Genome Research|January 7, 2014
Genomic analysis of primordial dwarfism reveals novel disease genesRanad Shaheen, Eissa Faqeih, Shinu Ansari, et al.
JIMD Reports|October 6, 2017
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase DeficiencyAbdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, et al.
Frontiers in Genetics|June 1, 2022
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi PatientsMajid Alfadhel, Basma Abadel, Hind Almaghthawi, et al.
Pageof 9