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

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

Facilitating intrafamily communication to enable earlier di..:

Germain, Dominique P. ; Al Murshedi, Fathiya ; Al Jasmi, Fatma...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107838 , 2024

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

3

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/..

4

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/..

5

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/..

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

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/..

8

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/..

9

Expanding the clinical spectrum of cytosolic phosphoenolpyr..:

Al Busaidi, Marwa ; Mohamed, Feda E ; Al-Ajmi, Eiman...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625263/. , 2023

Link: http://www.ncbi.nlm.nih...

10

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

Cikes, Domagoj ; Elsayad, Kareem ; Sezgin, Erdinc...
Cikes , D , Elsayad , K , Sezgin , E , Koitai , E , Torma , F , Orthofer , M , Yarwood , R , Heinz , L X , Sedlyarov , V , Miranda , N D , Grapentine , S , Al-Murshedi , F , Abot , A , Weidinger , A , Kutchukian , C , Sanchez , C , Cronin , S J F , Novatchkova , M , Kavirayani , A , Schuetz , T , Haubner , B , Haas , L , Hagelkruys , A , Jackowski , S , Kozlov , A V , Jacquemond , V , Knauf , C , Superti-Furga , G , Rullman , E , Gustafsson , T , McDermot , J , Lowe , M , Radak , Z , Chamberlain , J S , Bakovic , M , Banka , S & Penninger , J M 2023 , ' Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing ' , Nature Metabolism . https://doi.org/10.1038/s42255-023-00791-1. , 2023

Link: https://research.manches..

11

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

Westrip, Christian A E ; Paul, Franziska ; Al-Murshedi, Fathiya...
https://linkinghub.elsevier.com/retrieve/pii/S1098360023009061. , 2023

Link: http://hdl.handle.net/10..

12

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/..

13

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A..:

Azza AL Shidhani ; Abdulhamid Al Hinai ; Khalid Al Thihli...
https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-04796&look4=. , 2023

Link: https://doi.org/10.4274/..

14

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

Cikes, Domagoj ; Elsayad, Kareem ; Sezgin, Erdinc...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s42255-023-00766-2. , 2023

Link: https://research-explore..

15

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..