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Amal Alhashem

Showing results (41-50 of 94) with videos related to

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Human Genetics|September 21, 2019
MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathyMelissa H Broeks, Hanan E Shamseldin, Amal Alhashem, et al.
American Journal of Human Genetics|May 20, 2014
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDHRanad Shaheen, Zuhair Rahbeeni, Amal Alhashem, et al.
Human Molecular Genetics|February 4, 2014
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeMohammed A Aldahmesh, Yuanyuan Li, Amal Alhashem, et al.
American Journal of Medical Genetics. Part A|July 26, 2017
Congenital disorders of glycosylation: The Saudi experienceSarah Alsubhi, Amal Alhashem, Eissa Faqeih, et al.
Pediatric Neurology|March 31, 2019
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab SubjectsMohammed Almannai, Rana Felemban, Mohammed A Saleh, et al.
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
Human Genetics|May 6, 2020
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesiaHanan E Shamseldin, Ibrahim Al Mogarri, Mansour M Alqwaiee, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
Risk Management and Healthcare Policy|November 10, 2025
The Saudi National Policy and Protocol for Epidermolysis BullosaAshjan Alheggi, Amal Alhashem, Hind Mohammad H Alshihry, et al.
Hepatology (Baltimore, Md.)|October 10, 2019
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in HumansRanad Shaheen, Saud Alsahli, Nour Ewida, et al.
Pageof 10

Showing results (41-50 of 94) with videos related to

Sort By:
Pageof 10
Human Genetics|September 21, 2019
MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathyMelissa H Broeks, Hanan E Shamseldin, Amal Alhashem, et al.
American Journal of Human Genetics|May 20, 2014
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDHRanad Shaheen, Zuhair Rahbeeni, Amal Alhashem, et al.
Human Molecular Genetics|February 4, 2014
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeMohammed A Aldahmesh, Yuanyuan Li, Amal Alhashem, et al.
American Journal of Medical Genetics. Part A|July 26, 2017
Congenital disorders of glycosylation: The Saudi experienceSarah Alsubhi, Amal Alhashem, Eissa Faqeih, et al.
Pediatric Neurology|March 31, 2019
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab SubjectsMohammed Almannai, Rana Felemban, Mohammed A Saleh, et al.
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
Human Genetics|May 6, 2020
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesiaHanan E Shamseldin, Ibrahim Al Mogarri, Mansour M Alqwaiee, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
Risk Management and Healthcare Policy|November 10, 2025
The Saudi National Policy and Protocol for Epidermolysis BullosaAshjan Alheggi, Amal Alhashem, Hind Mohammad H Alshihry, et al.
Hepatology (Baltimore, Md.)|October 10, 2019
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in HumansRanad Shaheen, Saud Alsahli, Nour Ewida, et al.
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