Fathiya Al Murshedi (Fathiya Al-Murshedi)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 6

Top Topics

Stem Cell Transplantation

Diabetic Retinopathy

Top Venues

Journal of pediatric genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Fatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi, Amna Al-Futaisi, Fathiya Al Murshedi
Transient response to high-dose niacin therapy in a patient with NAXE deficiency. JIMD reports 65 (4) (2024)
Khalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al-Habsi, Eiman Al-Ajmi, Fatma Al-Jasmi, Fathiya Al Murshedi
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency. JIMD reports 65 (4) (2024)
Khalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al-Habsi, Eiman Al-Ajmi, Fatma Al-Jasmi, Fathiya Al Murshedi
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency. JIMD reports 65 (4) (2024)
Fatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi, Amna Al-Futaisi, Fathiya Al Murshedi
Transient response to high-dose niacin therapy in a patient with NAXE deficiency. JIMD reports 65 (4) (2024)
Andreas R Janecke, Xiaoqin Liu, Rüdiger Adam, Sumanth Punuru, Arne Viestenz, Valeria Strauß, Martin Laass, Elizabeth Sanchez, Roberto Adachi, Martha P Schatz, Ujwala S Saboo, Naveen Mittal, Klaus Rohrschneider, Johanna C Escher, Anuradha Ganesh, Sana Al Zuhaibi, Fathiya Al Murshedi, Badr M Rasheed Alsaleem, Majid Alfadhel, Siham Al Sinani, Fowzan Sami Alkuraya, Lukas A Huber, Thomas Müller, Ruth Heidelberger, Roger Janz
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects. Human genetics 140 (8) (2021)
Naema Al Shibli, Almundher Al-Maawali, Alaa Elmanzalawy, Maryam Al-Nabhani, Roshan Koul, Ahlam Gabr, Fathiya Al Murshedi
A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum. Journal of pediatric genetics 9 (4) (2020)