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Almontashiri, Naif A.
84
results:
Format
Online (84)
Mediatypes
Articles (Online) (42)
OpenAccess-fulltext (42)
Sorted by: Relevance
Sorted by: Year
?
1
DISP1 deficiency: Monoallelic and biallelic variants cause ..:
Lavillaureix, Alinoë
;
Rollier, Paul
;
Kim, Artem
...
Genetics in Medicine. 26 (2024) 7 - p. 101126 , 2024
Link:
https://doi.org/10.1016/..
?
2
Classical phenylketonuria presenting as maternal PKU syndro..:
Alghamdi, Malak Ali
;
O'Donnell‐Luria, Anne
;
Almontashiri, Naif A.
...
JIMD Reports. 64 (2023) 5 - p. 312-316 , 2023
Link:
https://doi.org/10.1002/..
?
3
Clinical, Biochemical, and Molecular Characterization of Ne..:
Al-Hussaini, Abdulrahman
;
AlSaleem, Badr
;
AlHomaidani, Hamad
...
Frontiers in Pediatrics. 9 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
4
The need for population-based studies to estimate the rate ..:
Hannan, Mohammed
;
Basit, Sulman
;
Almontashiri, Naif A.
.
Journal of Taibah University Medical Sciences. 10 (2015) 4 - p. 509-511 , 2015
Link:
https://doi.org/10.1016/..
?
5
Mitochondrial gene variant contributing to coronary artery ..:
Almontashiri, Naif A.
;
Teng, Allen C.T.
;
Chen, Hsiao‐Huei
...
The FASEB Journal. 25 (2011) S1 - p. , 2011
Link:
https://doi.org/10.1096/..
?
6
Commentary on A Patient with Coarse Facial Features and Mol..:
Almontashiri, Naif A M
Clinical Chemistry. 69 (2023) 1 - p. 21-21 , 2023
Link:
https://doi.org/10.1093/..
?
7
Biallelic loss of function variant in ZNF808 is associated ..:
Alqahtani, Mohammad Awwad
;
Al‐Qahtani, Saleh M.
;
Al‐Falki, Yahya H.
...
Clinical Genetics. 104 (2023) 4 - p. 497-498 , 2023
Link:
https://doi.org/10.1111/..
?
8
Functional analysis of germline VANGL2 variants using rescu..:
Derrick, Christopher J
;
Szenker-Ravi, Emmanuelle
;
Santos-Ledo, Adrian
...
Human Molecular Genetics. 33 (2023) 2 - p. 150-169 , 2023
Link:
https://doi.org/10.1093/..
?
9
Impact of the SARS-CoV-2 nucleocapsid 203K/204R mutations o..:
Shuaib, Muhammad
;
Adroub, Sabir
;
Mourier, Tobias
...
Genome Medicine. 15 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
10
Commentary on Multiple Copy Number Variants Detected by Non..:
Almontashiri, Naif A M
Clinical Chemistry. 68 (2022) 5 - p. 633-633 , 2022
Link:
https://doi.org/10.1093/..
?
11
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiologica..:
Alfadhel, Majid
;
Almuqbil, Mohammed
;
Al Mutairi, Fuad
...
Frontiers in Pediatrics. 9 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
12
Quick and Easy Assembly of a One-Step qRT-PCR Kit for COVID..:
Takahashi, Masateru
;
Tehseen, Muhammad
;
Salunke, Rahul
...
ACS Omega. 6 (2021) 11 - p. 7374-7386 , 2021
Link:
https://doi.org/10.1021/..
?
13
A Child with Progressive Hypertrophic Cardiomyopathy and La..:
AlFaris, Haya S
;
Rahbeeni, Zuhair A
;
Peake, Roy W A
.
Clinical Chemistry. 67 (2021) 6 - p. 912-914 , 2021
Link:
https://doi.org/10.1093/..
?
14
A Robust, Safe, and Scalable Magnetic Nanoparticle Workflow..:
Ramos‐Mandujano, Gerardo
;
Salunke, Rahul
;
Mfarrej, Sara
...
Global Challenges. 5 (2021) 4 - p. , 2021
Link:
https://doi.org/10.1002/..
?
15
A discarded synonymous variant inNPHP3explains nephronophth..:
Olinger, Eric
;
Alawi, Intisar Al
;
Al Riyami, Mohammed S.
...
Human Mutation. 42 (2021) 10 - p. 1221-1228 , 2021
Link:
https://doi.org/10.1002/..
1-15