Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Amal AlHashem

Showing results (31-40 of 86) with videos related to

Pageof 9
Sort By:
Genes|November 27, 2024
<i>ANKS6</i> Variants Underlie Polycystic Kidneys in Prenatal and Neonatal CasesLama S Almohlesy, Faiqa Imtiaz, Maha Tulbah, et al.
The Application of Clinical Genetics|November 3, 2025
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the FutureMajid Alfadhel, Amal AlHashem, Wesam Kurdi, et al.
Clinical Genetics|February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndromeLama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.
American Journal of Medical Genetics. Part A|July 21, 2022
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndromeRuqaiah Altassan, Ahmad Qudair, Riyadh Alokaili, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2018
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variantsSateesh Maddirevula, Hamoud Alhebbi, Awad Alqahtani, et al.
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.
Pageof 9

Showing results (31-40 of 86) with videos related to

Sort By:
Pageof 9
Genes|November 27, 2024
<i>ANKS6</i> Variants Underlie Polycystic Kidneys in Prenatal and Neonatal CasesLama S Almohlesy, Faiqa Imtiaz, Maha Tulbah, et al.
The Application of Clinical Genetics|November 3, 2025
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the FutureMajid Alfadhel, Amal AlHashem, Wesam Kurdi, et al.
Clinical Genetics|February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndromeLama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.
American Journal of Medical Genetics. Part A|July 21, 2022
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndromeRuqaiah Altassan, Ahmad Qudair, Riyadh Alokaili, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2018
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variantsSateesh Maddirevula, Hamoud Alhebbi, Awad Alqahtani, et al.
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.
Pageof 9