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Amal Alhashem

Showing results (21-30 of 94) with videos related to

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Pediatric Neurology|April 29, 2017
Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia InvolvementAlaa Eskandrani, Amal AlHashem, El-Sayed Ali, et al.
American Journal of Medical Genetics. Part A|February 20, 2021
Further delineation of SMG9-related heart and brain malformation syndromeNorah Altuwaijri, Mona Abdelbaky, Amal Alhashem, et al.
Human Genetics|November 9, 2021
Mitochondrial "dysmorphology" in variant classificationHanan E Shamseldin, Amal Alhashem, Brahim Tabarki, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|September 20, 2024
Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophyEnam Danish, Amal Alhashem, Nada Naaman, et al.
Neurology. Genetics|July 13, 2022
A Biallelic Variant in <i>FRA10AC1</i> Is Associated With Neurodevelopmental Disorder and Growth RetardationNorah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.
JIMD Reports|October 11, 2015
Further Delineation of the ALG9-CDG PhenotypeSarah AlSubhi, Amal AlHashem, Anas AlAzami, et al.
Neurology. Genetics|July 23, 2024
Multiplex Consanguineous Family Highlights <i>CLASP1</i> as a Candidate Gene for LissencephalyRawan Alsafh, Amal Alhashem, Aly Elsyed, et al.
Molecular Genetics and Metabolism Reports|November 8, 2021
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi ArabiaAnar Alfarsi, Majid Alfadhel, Seham Alameer, et al.
European Journal of Medical Genetics|April 19, 2021
Hypospadias in ring X syndromeHatem Elghezal, Khowla Alfayez, Inesse Ben Abdallah, et al.
American Journal of Human Genetics|August 27, 2013
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndromeHanan E Shamseldin, Anna Rajab, Amal Alhashem, et al.
Pageof 10

Showing results (21-30 of 94) with videos related to

Sort By:
Pageof 10
Pediatric Neurology|April 29, 2017
Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia InvolvementAlaa Eskandrani, Amal AlHashem, El-Sayed Ali, et al.
American Journal of Medical Genetics. Part A|February 20, 2021
Further delineation of SMG9-related heart and brain malformation syndromeNorah Altuwaijri, Mona Abdelbaky, Amal Alhashem, et al.
Human Genetics|November 9, 2021
Mitochondrial "dysmorphology" in variant classificationHanan E Shamseldin, Amal Alhashem, Brahim Tabarki, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|September 20, 2024
Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophyEnam Danish, Amal Alhashem, Nada Naaman, et al.
Neurology. Genetics|July 13, 2022
A Biallelic Variant in <i>FRA10AC1</i> Is Associated With Neurodevelopmental Disorder and Growth RetardationNorah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.
JIMD Reports|October 11, 2015
Further Delineation of the ALG9-CDG PhenotypeSarah AlSubhi, Amal AlHashem, Anas AlAzami, et al.
Neurology. Genetics|July 23, 2024
Multiplex Consanguineous Family Highlights <i>CLASP1</i> as a Candidate Gene for LissencephalyRawan Alsafh, Amal Alhashem, Aly Elsyed, et al.
Molecular Genetics and Metabolism Reports|November 8, 2021
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi ArabiaAnar Alfarsi, Majid Alfadhel, Seham Alameer, et al.
European Journal of Medical Genetics|April 19, 2021
Hypospadias in ring X syndromeHatem Elghezal, Khowla Alfayez, Inesse Ben Abdallah, et al.
American Journal of Human Genetics|August 27, 2013
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndromeHanan E Shamseldin, Anna Rajab, Amal Alhashem, et al.
Pageof 10