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JIMD Reports|September 13, 2023
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal womanMalak Ali Alghamdi, Anne O'Donnell-Luria, Naif A Almontashiri, et al.Clinical Case Reports|January 25, 2021
Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidismMalak Ali Alghamdi, Waleed H Alkhamis, Dima Z Jamjoom, 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.Clinical Genetics|August 18, 2021
Molecular autopsy by proxy in preconception counselingMalak Ali Alghamdi, Ameinah Alrasheedi, Esra Alghamdi, et al.Frontiers in Immunology|January 25, 2021
A Novel Biallelic STING1 Gene Variant Causing SAVI in Two SiblingsMalak Ali Alghamdi, Jaazeel Mulla, Narjes Saheb Sharif-Askari, et al.Clinical Genetics|December 23, 2020
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathyLia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, et al.Children (Basel, Switzerland)|September 23, 2022
Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University HospitalKhalid A Alhasan, Walaa Alshuaibi, Muddathir H Hamad, et al.American Journal of Medical Genetics. Part A|December 20, 2024
Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE VariantMalak Ali Alghamdi, Muddathir H Hamad, Isra Alghamdi, et al.Frontiers in Genetics|July 11, 2022
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat SyndromeMalak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, et al.Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.Pageof 2