E-LIB Suche - Ergebnisse für: Almontashiri, Naif

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

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/..

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/..

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

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

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/..

10

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/..

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

Clinical characterization and further confirmation of the a..:

Bilal Shamsi, Monis ; Saleh, Mohamed ; Almuntashri, Makki...
Journal of Human Genetics. 66 (2021) 7 - p. 689-695 , 2021

Link: https://doi.org/10.1038/..

13

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/..

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/..