E-LIB Suche - Ergebnisse für: Al-Jasmi, Fatma

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

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

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

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/..

12

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/..

13

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/..

14

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/..

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/..