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

Brahim Tabarki

Showing results (51-60 of 99) with videos related to

Pageof 10
Sort By:
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.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|August 9, 2022
First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 geneRahma Felhi, Kamel Monastiri, Hayet Ben Hamida, et al.
Medicine|June 30, 2021
Detrimental effect of antiepileptic drugs dose in pediatric children with epilepsy in Saudi Arabia: A prospective cohort studyBadriyah S Alotaibi, Abdulaziz A Alodhayani, Ashraf Alwan, et al.
Case Reports in Neurological Medicine|April 2, 2025
Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the LiteratureAbir Zioudi, Hanene Benrhouma, Maha Jamoussi, et al.
European Journal of Pediatrics|May 4, 2023
Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature reviewMusaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, et al.
European Journal of Pediatrics|March 17, 2023
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature reviewMusaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 19, 2004
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduriaRim Rzem, Maria Veiga-da-Cunha, Gaëtane Noël, et al.
Scientific Reports|June 19, 2021
A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathyKheloud M Alhamoudi, Tlili Barhoumi, Hamad Al-Eidi, et al.
Pageof 10

Showing results (51-60 of 99) with videos related to

Sort By:
Pageof 10
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.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|August 9, 2022
First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 geneRahma Felhi, Kamel Monastiri, Hayet Ben Hamida, et al.
Medicine|June 30, 2021
Detrimental effect of antiepileptic drugs dose in pediatric children with epilepsy in Saudi Arabia: A prospective cohort studyBadriyah S Alotaibi, Abdulaziz A Alodhayani, Ashraf Alwan, et al.
Case Reports in Neurological Medicine|April 2, 2025
Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the LiteratureAbir Zioudi, Hanene Benrhouma, Maha Jamoussi, et al.
European Journal of Pediatrics|May 4, 2023
Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature reviewMusaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, et al.
European Journal of Pediatrics|March 17, 2023
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature reviewMusaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 19, 2004
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduriaRim Rzem, Maria Veiga-da-Cunha, Gaëtane Noël, et al.
Scientific Reports|June 19, 2021
A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathyKheloud M Alhamoudi, Tlili Barhoumi, Hamad Al-Eidi, et al.
Pageof 10