Fathiya Al-Murshedi
5PUBLICATIONS
20CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (5)
Sort by Publication Date:
|Jul 08, 2024
Transient response to high-dose niacin therapy in a patient with NAXE deficiency.Fatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi
|Jul 08, 2024
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.Khalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi
|Nov 05, 2021
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging CombinationAzza Al Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli
|May 11, 2021
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.Andreas R Janecke, Xiaoqin Liu, Rüdiger Adam
|Aug 09, 2020
A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum.Naema Al Shibli, Almundher Al-Maawali, Alaa Elmanzalawy
Pageof 1
Frequent Collaborators
1 joint publications
Andreas R Janecke
1 joint publications
Arne Viestenz
1 joint publications
Roberto Adachi
1 joint publications
Ujwala S Saboo
1 joint publications
Klaus Rohrschneider
1 joint publications
Johanna Escher
1 joint publications
Badr AlSaleem
1 joint publications
Majid Alfadhel
1 joint publications
Siham Al Sinani
1 joint publications
Fowzan S Alkuraya
