Suchergebnisse - "Al-Jasmi, Fatma"

PubPharm (80)

1

Exploring the efficacy and safety of Ambroxol in Gaucher disease : an overview of clinical studies

enthalten in: Frontiers in pharmacology | 2024

von Mohamed, F. | Al-Jasmi, F.

2

Spectrum of genetic variants in bilateral sensorineural hearing loss

enthalten in: Frontiers in genetics | 2024

von Ali, A. | Tabouni, M. | Kizhakkedath, P. | +7

3

Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease : Insights from Molecular Modeling

enthalten in: Biomedicines | 2023

von Antony, P. | Baby, B. | Ali, A. | +2

4

Correction : Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

enthalten in: Orphanet journal of rare diseases | 2023

von Al-Hassnan, Z. | Al Hashmi, N. | Makhseed, N. | +3

ErratumFor: Orphanet J Rare Dis. 2022 Oct 27;17(1):388. - PMID 36303251

5

Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

enthalten in: Orphanet journal of rare diseases | 2023

von Al-Hassnan, Z. | Al Hashmi, N. | Makhseed, N. | +3

6

A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancer

enthalten in: Briefings in bioinformatics | 2023

von Ahmad, R. | Ali, B. | Al-Jasmi, F. | +3

7

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency : novel PCK1 variants in four Arabian Gulf families

enthalten in: Orphanet journal of rare diseases | 2023

von Al Busaidi, M. | Mohamed, F. | Al-Ajmi, E. | +6

8

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

enthalten in: Orphanet journal of rare diseases | 2023

von Al Busaidi, M. | Mohamed, F. | Al-Ajmi, E. | +6

9

Case report : Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum

enthalten in: Frontiers in genetics | 2023

von Kizhakkedath, P. | AlDhaheri, W. | Baydoun, I. | +6

10

Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly : a case report and mutational analysis

enthalten in: Frontiers in pediatrics | 2023

von Mohamed, F. | Ghattas, M. | Almansoori, T. | +7

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