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Al Murshedi, Fathiya
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1

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/..
 
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2

Uptake of prenatal genetic diagnosis and termination of pre..:

Bruwer, Zandré ; Al Ubaidani, Salwa ; Al Kharusi, Khalsa...
Journal of Community Genetics.  13 (2022)  3 - p. 303-311 , 2022
Link: https://doi.org/10.1007/..
 
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3

Hypoketotic hypoglycemia without neuromuscular complication..:

Al Shamsi, Bushra ; Al Murshedi, Fathiya ; Al Habsi, Asila.
European Journal of Human Genetics.  30 (2021)  8 - p. 976-979 , 2021
Link: https://doi.org/10.1038/..
 
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4

Pathogenic STX3 variants affecting the retinal and intestin..:

Janecke, Andreas R. ; Liu, Xiaoqin ; Adam, Rüdiger...
Human Genetics.  140 (2021)  8 - p. 1143-1156 , 2021
Link: https://doi.org/10.1007/..
 
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5

CNP deficiency causes severe hypomyelinating leukodystrophy..:

Al-Abdi, Lama ; Al Murshedi, Fathiya ; Elmanzalawy, Alaa...
Human Genetics.  139 (2020)  5 - p. 615-622 , 2020
Link: https://doi.org/10.1007/..
 
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6

Loss of UGP2 in brain leads to a severe epileptic encephalo..:

Perenthaler, Elena ; Nikoncuk, Anita ; Yousefi, Soheil...
Acta Neuropathologica.  139 (2019)  3 - p. 415-442 , 2019
Link: https://doi.org/10.1007/..
 
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7

Further delineation of Temtamy syndrome of corpus callosum ..:

Alrakaf, Laila ; Al‐Owain, Mohammed A. ; Busehail, Maryam...
American Journal of Medical Genetics Part A.  176 (2018)  3 - p. 715-721 , 2018
Link: https://doi.org/10.1002/..
 
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8

Correction to: Expanding the genetic heterogeneity of intel..:

Anazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo...
Human Genetics.  137 (2017)  1 - p. 105-109 , 2017
Link: https://doi.org/10.1007/..
 
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9

Expanding the genetic heterogeneity of intellectual disabil..:

Anazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo...
Human Genetics.  136 (2017)  11-12 - p. 1419-1429 , 2017
Link: https://doi.org/10.1007/..
 
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10

Guidelines for acute management of hyperammonemia in the Mi..:

Alfadhel, Majid ; Al Mutairi, Fuad ; Makhseed, Nawal...
Therapeutics and Clinical Risk Management.  , 2016
Link: https://doi.org/10.2147/..
 
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11

Child With Congenital Generalized Lipodystrophy Type 4 for ..:

Al Aamri, Is'haq ; Nagathan, Swaroopa Deepak ; Al-Abri, Ismail Abdullah..
Journal of Cardiothoracic and Vascular Anesthesia.  36 (2022)  11 - p. 4228-4229 , 2022
Link: https://doi.org/10.1053/..
 
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12

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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13

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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14

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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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/..
 
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