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Almontashiri, Naif A.
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Online (101)
Mediatypes
Articles (Online) (43)
OpenAccess-fulltext (58)
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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/..
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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/..
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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
An assessment of the role of vinculin loss of function vari..:
Hawley, Megan H.
;
Almontashiri, Naif
;
Biesecker, Leslie G.
...
Human Mutation. 41 (2020) 9 - p. 1577-1587 , 2020
Link:
https://doi.org/10.1002/..
?
5
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/..
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6
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/..
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7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
Biallelic loss of function variant in the unfolded protein ..:
Al‐Fadhli, Fatima M.
;
Afqi, Manal
;
Sairafi, Mona Hamza
...
Clinical Genetics. 99 (2021) 5 - p. 694-703 , 2021
Link:
https://doi.org/10.1111/..
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13
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/..
?
14
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/..
?
15
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/..
1-15