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

1

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

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

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

The landscape of acid sphingomyelinase deficiency in a new ..:

Moeenaldeen AlSayed ; Fatma Al-Jasmi ; Tawfeg Ben Omran...
http://www.ejmanager.com/fulltextpdf.php?mno=302656906. , 2023

Link: https://doi.org/10.24911..

9

Expanding the clinical spectrum of cytosolic phosphoenolpyr..:

Marwa Al Busaidi ; Feda E. Mohamed ; Eiman Al-Ajmi...
https://doi.org/10.1186/s13023-023-02946-5. , 2023

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

10

Genetic Causes, Clinical Features, and Survival of Underlyi..:

Al-Tamemi, Salem ; Al-Zadjali, Shoaib ; Bruwer, Zandre...
Journal of Clinical Immunology. 43 (2022) 2 - p. 452-465 , 2022

Link: https://doi.org/10.1007/..

11

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, Luis Carlos ; Al-Salmi, Fatema ; Maroofian, Reza...
Brain. 145 (2022) 9 - p. 3095-3107 , 2022

Link: https://doi.org/10.1093/..

12

The diagnostic yield, candidate genes, and pitfalls for a g..:

Al-Kasbi, Ghalia ; Al-Murshedi, Fathiya ; Al-Kindi, Adila...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

13

The diagnostic yield, candidate genes, and pitfalls for a g..:

Ghalia Al-Kasbi ; Fathiya Al-Murshedi ; Adila Al-Kindi...
https://doi.org/10.1038/s41598-022-22036-z. , 2022

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

14

THUMPD1 bi-allelic variants cause loss of tRNA acetylation ..:

Martin Broly ; Bogdan V Polevoda ; Kamel M Awayda...
info:eu-repo/semantics/altIdentifier/pmid/35196516. , 2022

Link: https://hdl.handle.net/1..

15

Syndrome of Inappropriate Antidiuretic Hormone Secretion in..:

Al-Hinai, Abdulhamid ; Al-Murshedi, Fathiya ; Al-Nabhani, Dana.
Sultan Qaboos University Medical Journal [SQUMJ]. 21 (2021) 2 - p. e312-315 , 2021

Link: https://doi.org/10.18295..