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Al-Murshedi, Fathiya
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1

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/..
 
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2

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/..
 
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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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

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..
 
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12

Underdiagnoses resulting from variant misinterpretation: Ti..:

Al-Murshedi, Fathiya ; Meftah, Douja ; Scott, Patrick
European Journal of Medical Genetics.  62 (2019)  1 - p. 39-43 , 2019
Link: https://doi.org/10.1016/..
 
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13

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and ..:

Almannai, Mohammed ; Felemban, Rana ; Saleh, Mohammed A....
Pediatric Neurology.  96 (2019)  - p. 40-47 , 2019
Link: https://doi.org/10.1016/..
 
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14

Encephalopathy mimicking non-convulsive status Epilepticus:

Nandhagopal, Ramachandiran ; Al-Murshedi, Fathiya ; Al-Busaidi, Mujahid.
Neurosciences.  23 (2018)  1 - p. 52-56 , 2018
Link: https://doi.org/10.17712..
 
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15

Mutation in mitochondrial complex IV subunit COX5A causes p..:

Baertling, Fabian ; Al-Murshedi, Fathiya ; Sánchez-Caballero, Laura...
Human Mutation.  38 (2017)  6 - p. 692-703 , 2017
Link: https://doi.org/10.1002/..
 
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