I agree that this site is using cookies. You can find further informations here.
X
Nashabat, Marwan
65  results:
Search for persons X
?
1

SNUPN deficiency causes a recessive muscular dystrophy due ..:

Nashabat, Marwan ; Nabavizadeh, Nasrinsadat ; Saraçoğlu, Hilal Pırıl...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
?
2

Biallelic NUDT2 variants defective in mRNA decapping cause ..:

Husain, Ralf A ; Jiao, Xinfu ; Hennings, J Christopher...
Brain.  147 (2023)  4 - p. 1197-1205 , 2023
Link: https://doi.org/10.1093/..
 
?
3

Thiamine Disorders:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,
Alfadhel, Majid ; Nashabat, Marwan - p. 537-546 , 2022
Link: https://doi.org/10.1007/..
 
?
4

Mutated VWA8 Is Associated With Developmental Delay, Microc..:

Umair, Muhammad ; Farooq Khan, Muhammad ; Aldrees, Mohammed...
Frontiers in Cell and Developmental Biology.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
?
5

Long-term effectiveness of carglumic acid in patients with ..:

Alfadhel, Majid ; Nashabat, Marwan ; Saleh, Mohammed...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
?
6

Inherited Metabolic Causes of Stroke in Children: Mechanism..:

Tabarki, Brahim ; Hakami, Wejdan ; Alkhuraish, Nader...
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
?
7

A homozygous nonsense mutation in DCBLD2 is a candidate cau..:

Alhamoudi, Kheloud M. ; Barhoumi, Tlili ; Al-Eidi, Hamad...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
?
8

Mutated RAP1GDS1 causes a new syndrome of dysmorphic featur..:

Asiri, Abdulaziz ; Aloyouni, Essra ; Umair, Muhammad...
Annals of Clinical and Translational Neurology.  7 (2020)  6 - p. 956-964 , 2020
Link: https://doi.org/10.1002/..
 
?
9

A Missense Mutation in the UGDH Gene Is Associated With Dev..:

Alhamoudi, Kheloud M. ; Bhat, Javaid ; Nashabat, Marwan...
Frontiers in Pediatrics.  8 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
?
10

A Trial of Favipiravir and Hydroxychloroquine combination i..:

Bosaeed, Mohammad ; Mahmoud, Ebrahim ; Hussein, Mohammad...
Trials.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
?
11

Diversity of Phenotype and Genetic Etiology of 23 Cystinuri..:

Alghamdi, Malak ; Alhasan, Khalid A. ; Taha Elawad, Areej...
Frontiers in Pediatrics.  8 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
?
12

Biallelic loss-of-function variants in NEMF cause central n..:

Ahmed, Ashfaque ; Wang, Meng ; Bergant, Gaber...
Human Genetics.  140 (2020)  4 - p. 579-592 , 2020
Link: https://doi.org/10.1007/..
 
?
13

Clinical presentation of seven patients with Methylenetetra..:

Aljassim, Nada ; Alfadhel, Majid ; Nashabat, Marwan.
Molecular Genetics and Metabolism Reports.  25 (2020)  - p. 100644 , 2020
Link: https://doi.org/10.1016/..
 
?
14

The landscape of early infantile epileptic encephalopathy i..:

Nashabat, Marwan ; Al Qahtani, Xena S. ; Almakdob, Salwa...
Seizure.  69 (2019)  - p. 154-172 , 2019
Link: https://doi.org/10.1016/..
 
?
15

Evaluation of long-term effectiveness of the use of carglum..:

Nashabat, Marwan ; Obaid, Abdulrahman ; Al Mutairi, Fuad...
BMC Pediatrics.  19 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
1-15