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Al-Jasmi, Fatma
91
results:
Search for persons
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Online (91)
Mediatypes
Articles (Online) (55)
Bookchapter (Online) (1)
OpenAccess-fulltext (35)
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?
1
Exploring the efficacy and safety of Ambroxol in Gaucher di..:
Mohamed, Feda E.
;
Al-Jasmi, Fatma
Frontiers in Pharmacology. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
2
Spectrum of genetic variants in bilateral sensorineural hea..:
Ali, Amanat
;
Tabouni, Mohammed
;
Kizhakkedath, Praseetha
...
Frontiers in Genetics. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
3
A review of genetic variant databases and machine learning ..:
Ahmad, Rahaf M
;
Ali, Bassam R
;
Al-Jasmi, Fatma
...
Briefings in Bioinformatics. 25 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1093/..
?
4
Case report: Birk–Landau–Perez syndrome linked to the SLC30..:
Kizhakkedath, Praseetha
;
AlDhaheri, Watfa
;
Baydoun, Ibrahim
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
5
Novel compound heterozygous variants (c.971delA/c.542C > T)..:
Mohamed, Feda E.
;
Ghattas, Mohammad A.
;
Almansoori, Taleb M.
...
Frontiers in Pediatrics. 11 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
6
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/..
?
7
Case Report: Reinterpretation and Reclassification of ARSB:..:
Al Dhahouri, Nahid
;
Ali, Amanat
;
Hertecant, Jozef
.
Frontiers in Pediatrics. 9 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
8
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency i..:
Mohamed, Feda E.
;
Ali, Amanat
;
Al-Tenaiji, Amal
..
Journal of Molecular Neuroscience. 72 (2022) 6 - p. 1322-1333 , 2022
Link:
https://doi.org/10.1007/..
?
9
The pharmacological chaperone N-n-butyl-deoxygalactonojirim..:
Mohamed, Fedah E.
;
Al Sorkhy, Mohammad
;
Ghattas, Mohammad A.
...
Human Genetics. 139 (2020) 5 - p. 657-673 , 2020
Link:
https://doi.org/10.1007/..
?
10
The pharmacological chaperone N-(n-butyl)deoxygalactonojiri..:
Mohamed, Feda Emad
;
Al Sorakhy, Mohammad
;
Ghattas, Mohammad A.
...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S112 , 2020
Link:
https://doi.org/10.1016/..
?
11
A Novel Homozygous Missense Variant in the NAGA Gene with E..:
Mohamed, Fedah E.
;
Al Sorkhy, Mohammad
;
Ghattas, Mohammad A.
...
Journal of Molecular Neuroscience. 70 (2019) 1 - p. 45-55 , 2019
Link:
https://doi.org/10.1007/..
?
12
Atypical PEX16 peroxisome biogenesis disorder with mild bio..:
Zaabi, Nuha Al
;
Kendi, Anoud
;
Al-Jasmi, Fatma
...
Brain and Development. 41 (2019) 1 - p. 57-65 , 2019
Link:
https://doi.org/10.1016/..
?
13
Cover Image, Volume 40, Issue 3:
Rehman, Atteeq U.
;
Najafi, Maryam
;
Kambouris, Marios
...
Human Mutation. 40 (2019) 3 - p. i-i , 2019
Link:
https://doi.org/10.1002/..
?
14
Assessment of methylcitrate and methylcitrate to citrate ra..:
Al-Dirbashi, Osama Y.
;
Alfadhel, Majid
;
Al-Thihli, Khalid
...
Scientific Reports. 9 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/..
?
15
Quantification of methylcitrate in dried urine spots by liq..:
Al Dhahouri, Nahid
;
Langhans, Claus-Dieter
;
Al Hammadi, Zalikha
...
Clinica Chimica Acta. 487 (2018) - p. 41-45 , 2018
Link:
https://doi.org/10.1016/..
1-15