E-LIB Suche - Ergebnisse für: Al‐Murshedi, Fathiya

1

Transient response to high‐dose niacin therapy in a patient..:

Al‐Amrani, Fatema ; Al‐Thihli, Khalid ; Al‐Ajmi, Eiman..
JIMD Reports. 65 (2024) 4 - p. 212-225 , 2024

Link: https://doi.org/10.1002/..

2

A founder mutation in CA5A causing intrafamilial and interf..:

Al‐Thihli, Khalid ; Al Hashmi, Nadia ; Al Balushi, Aaisha...
JIMD Reports. 65 (2024) 4 - p. 226-232 , 2024

Link: https://doi.org/10.1002/..

3

Domino liver transplantation for maple syrup urine disease ..:

Kumar, Vikram ; Gautam, Vipul ; Agarwal, Shaleen...
Pediatric Transplantation. 27 (2023) 8 - p. , 2023

Link: https://doi.org/10.1111/..

4

Further phenotypic delineation of Alazami syndrome:

Al‐Hinai, Abdulhamid ; Al‐Hashmi, Samiya ; Ganesh, Anuradha...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2485-2490 , 2022

Link: https://doi.org/10.1002/..

5

Mitochondrial RNA processing defect caused by a SUPV3L1 mut..:

van Esveld, Selma L. ; Rodenburg, Richard J. ; Al‐Murshedi, Fathiya...
Journal of Inherited Metabolic Disease. 45 (2022) 2 - p. 292-307 , 2022

Link: https://doi.org/10.1002/..

6

Variability of non‐lethal Fowler syndrome phenotype associa..:

Al‐Murshedi, Fathiya ; Mirza, Hassan ; Al‐Saegh, Abeer...
Clinical Genetics. 98 (2020) 5 - p. 520-521 , 2020

Link: https://doi.org/10.1111/..

7

Reanalysis of exome sequencing data of intellectual disabil..:

Al‐Nabhani, Maryam ; Al‐Rashdi, Samiya ; Al‐Murshedi, Fathiya...
Clinical Genetics. 94 (2018) 6 - p. 495-501 , 2018

Link: https://doi.org/10.1111/..

8

Loss-of-function variant in DNASE1L3 causes a familial form..:

Al-Mayouf, Sulaiman M ; Sunker, Asma ; Abdwani, Reem...
Nature Genetics. 43 (2011) 12 - p. 1186-1188 , 2011

Link: https://doi.org/10.1038/..

9

Human SIRT5 variants with reduced stability and activity do..:

Yuan, Taolin ; Kumar, Surinder ; Skinner, Mary E....
iScience. 27 (2024) 6 - p. 109991 , 2024

Link: https://doi.org/10.1016/..

10

Expanding the clinical spectrum of cytosolic phosphoenolpyr..:

Al Busaidi, Marwa ; Mohamed, Feda E. ; Al-Ajmi, Eiman...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

11

Very long-chain acyl-CoA dehydrogenase deficiency and type ..:

Al-Busaidi, Salim Ahmed ; Al Nou'mani, Jawaher Al ; Al-Falahi, Zubaida...
Clinical Biochemistry. 116 (2023) - p. 16-19 , 2023

Link: https://doi.org/10.1016/..

12

Inactivation of DRG1, encoding a translation factor GTPase,..:

Westrip, Christian A.E. ; Paul, Franziska ; Al-Murshedi, Fathiya...
Genetics in Medicine. 25 (2023) 9 - p. 100893 , 2023

Link: https://doi.org/10.1016/..

13

PCYT2-regulated lipid biosynthesis is critical to muscle he..:

Cikes, Domagoj ; Elsayad, Kareem ; Sezgin, Erdinc...
Nature Metabolism. 5 (2023) 3 - p. 495-515 , 2023

Link: https://doi.org/10.1038/..

14

Biallelic variants in the synaptic vesicle glycoprotein 2 A..:

Al-Maawali, Almundher ; Al-Murshedi, Fathiya ; Al-Futaisi, Amna...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

15

Author Correction: PCYT2-regulated lipid biosynthesis is cr..:

Cikes, Domagoj ; Elsayad, Kareem ; Sezgin, Erdinc...
Nature Metabolism. 5 (2023) 4 - p. 711-711 , 2023

Link: https://doi.org/10.1038/..