Showing results (1-10 of 26) with videos related to
Sort By:
Pageof 3
European Journal of Medical Genetics|December 15, 2023
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17Tariq Al Jabry, Nadia Al-Hashmi, Basem Abdelhadi, et al.Case Reports in Genetics|November 27, 2018
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual DisabilityNadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, et al.International Journal of Nephrology|April 29, 2015
Primary hyperoxaluria type 1 in 18 children: genotyping and outcomeMohamed S Al Riyami, Badria Al Ghaithi, Nadia Al Hashmi, et al.Orphanet Journal of Rare Diseases|October 28, 2022
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf RegionZuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, et al.American Journal of Medical Genetics. Part A|May 14, 2011
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humansRanad Shaheen, Mohammed Al-Owain, Eissa Faqeih, et al.Human Heredity|July 26, 2014
Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional studyKhalid Al-Thihli, Fathiya Al-Murshedi, Nadia Al-Hashmi, et al.European Journal of Medical Genetics|November 26, 2018
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorderMohammed Mohammed, Nadia Al-Hashmi, Samiya Al-Rashdi, et al.JIMD Reports|July 8, 2024
A founder mutation in <i>CA5A</i> causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiencyKhalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, et al.Journal of Pediatric Genetics|August 1, 2024
Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in <i>PIEZO2</i> Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center ExperienceAaisha Al Balushi, Mariya Al Hinai, Alya Al Hosni, et al.Journal of Clinical Research in Pediatric Endocrinology|November 5, 2021
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging CombinationAzza Al Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, et al.Pageof 3