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Frontiers in Genetics
|
June 1, 2022
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
Majid Alfadhel, Basma Abadel, Hind Almaghthawi, 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 Future
Majid Alfadhel, Amal AlHashem, Wesam Kurdi, et al.
Plos One
|
July 31, 2025
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia
Abdulrahman Al-Hussaini, Mohammed AlMannai, Muhannad Alruwaithi, et al.
The Journal of Pediatrics
|
July 31, 2018
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B<sub>12</sub> Metabolism: Case Reports and Literature Review
Dolores Mullikin, Nishitha Pillai, Rossana Sanchez, et al.
Pediatric Neurology
|
March 31, 2019
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
Mohammed Almannai, Rana Felemban, Mohammed A Saleh, et al.
The Application of Clinical Genetics
|
October 8, 2024
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study
Lamia K Alshamlani, Dana S Alsulaim, Raghad S Alabbad, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2016
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
Keren Machol, Mahim Jain, Mohammed Almannai, et al.
Clinical Genetics
|
July 9, 2025
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review
Areej Alatawi, Omamah Alshehri, Aminah Alessa, et al.
Orphanet Journal of Rare Diseases
|
October 12, 2021
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, et al.
Journal of Clinical & Translational Endocrinology
|
February 20, 2026
Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (<i>NNT</i>) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families
Ibrahim Al Alwan, Raja Hussain Ali, Muhammad Umair, et al.
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of 6
Search research articles
Search
Showing results (31-40 of 56) with videos related to
Sort By:
Page
of 6
Frontiers in Genetics
|
June 1, 2022
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
Majid Alfadhel, Basma Abadel, Hind Almaghthawi, 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 Future
Majid Alfadhel, Amal AlHashem, Wesam Kurdi, et al.
Plos One
|
July 31, 2025
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia
Abdulrahman Al-Hussaini, Mohammed AlMannai, Muhannad Alruwaithi, et al.
The Journal of Pediatrics
|
July 31, 2018
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B<sub>12</sub> Metabolism: Case Reports and Literature Review
Dolores Mullikin, Nishitha Pillai, Rossana Sanchez, et al.
Pediatric Neurology
|
March 31, 2019
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
Mohammed Almannai, Rana Felemban, Mohammed A Saleh, et al.
The Application of Clinical Genetics
|
October 8, 2024
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study
Lamia K Alshamlani, Dana S Alsulaim, Raghad S Alabbad, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2016
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
Keren Machol, Mahim Jain, Mohammed Almannai, et al.
Clinical Genetics
|
July 9, 2025
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review
Areej Alatawi, Omamah Alshehri, Aminah Alessa, et al.
Orphanet Journal of Rare Diseases
|
October 12, 2021
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, et al.
Journal of Clinical & Translational Endocrinology
|
February 20, 2026
Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (<i>NNT</i>) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families
Ibrahim Al Alwan, Raja Hussain Ali, Muhammad Umair, et al.
Page
of 6