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1 . Academic Journal
Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice
저자
by
Yuan, Taolin
;
Kumar, Surinder
;
Skinner, Mary E.
;
Victor-Joseph, Ryan
;
Abuaita, Majd
, et al.
소스
In
iScience
21 June 2024 27(6)
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7 . Academic Journal
Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?
저자
by
Al-Murshedi, Fathiya
;
Meftah, Douja
;
Scott, Patrick
.
소스
In
European Journal of Medical Genetics
January 2019 62(1):39-43
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5 . Academic Journal
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder
저자
by
Westrip, Christian A.E.
;
Paul, Franziska
;
Al-Murshedi, Fathiya
;
Qaitoon, Hashim
;
Cham, Breana
, et al.
소스
In
Genetics in Medicine
September 2023 25(9)
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7 . Academic Journal
Domino liver transplantation for maple syrup urine disease in children: A single‐center case series.
저자
by
Kumar, Vikram
;
Gautam, Vipul
;
Agarwal, Shaleen
;
Pandey, Vijaykant
;
Goyal, Sumit
, et al.
소스
Pediatric Transplantation
. Dec2023, Vol. 27 Issue 8, p1-9. 9p.
Web of Science
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7 . Academic Journal
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
저자
by
Al Busaidi, Marwa
;
Mohamed, Feda E.
;
Al-Ajmi, Eiman
;
Al Hashmi, Nadia
;
Al-Thihli, Khalid
, et al.
소스
Orphanet Journal of Rare Diseases
. 11/3/2023, Vol. 18 Issue 1, p1-10. 10p.
Open Access (BioMed Central)
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7 . Academic Journal
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
저자
by
Al-Maawali, Almundher
;
Al-Murshedi, Fathiya
;
Al-Futaisi, Amna
;
Mansy, Ahmed
;
Al-Habsi, Asila
, et al.
소스
European Journal of Human Genetics
. 32(2):243-246
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7 . Academic Journal
Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.
저자
by
Al-Busaidi, Salim Ahmed
;
Al Nou'mani, Jawaher Al
;
Al-Falahi, Zubaida
;
Al-Farsi, Rajaa
;
Kumar, Suneel
, et al.
소스
Clinical Biochemistry
. Jun2023, Vol. 116, p16-19. 4p.
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7 . Academic Journal
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
저자
by
Al-Tamemi, Salem
;
Al-Zadjali, Shoaib
;
Bruwer, Zandre
;
Naseem, Shafiq-Ur-Rehman
;
Al-Siyabi, Nabila
, et al.
소스
Journal of Clinical Immunology
. Feb2023, Vol. 43 Issue 2, p452-465. 14p.
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7 . Academic Journal
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
저자
by
Al-Kasbi, Ghalia
;
Al-Murshedi, Fathiya
;
Al-Kindi, Adila
;
Al-Hashimi, Nadia
;
Al-Thihli, Khalid
, et al.
소스
Scientific Reports
. 11/7/2022, Vol. 12 Issue 1, p1-12. 12p.
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7 . Periodical
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
저자
by
Al-Maawali, Almundher
;
Al-Murshedi, Fathiya
;
Al-Futaisi, Amna
;
Mansy, Ahmed
;
Al-Habsi, Asila
, et al.
소스
European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-4, 4p
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