E-LIB Suche - Ergebnisse für: Al Mutairi, Fuad

1

Impact of citrulline substitution on clinical outcome after..:

Aldrian, Denise ; Waldner, Birgit ; Vogel, Georg F....
Journal of Inherited Metabolic Disease. 47 (2024) 2 - p. 220-229 , 2024

Link: https://doi.org/10.1002/..

2

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S....
The American Journal of Human Genetics. 111 (2024) 1 - p. 200-210 , 2024

Link: https://doi.org/10.1016/..

3

Expanding the phenotype of PPP1R21‐related neurodevelopment..:

Almannai, Mohammed ; Marafi, Dana ; Zaki, Maha S....
Clinical Genetics. 105 (2024) 6 - p. 620-629 , 2024

Link: https://doi.org/10.1111/..

4

Clinical and Molecular Characteristics of Neuronal Ceroid L..:

Saleh, Mohammed M. ; Hamhom, Abdulrahim M. ; Al-Otaibi, Ali...
Pediatric Neurology. 155 (2024) - p. 149-155 , 2024

Link: https://doi.org/10.1016/..

5

A Patient with Coarse Facial Features and Molecular Odyssey..:

Alfadhel, Majid ; Umair, Muhammad ; Al Tuwaijri, Abeer.
Clinical Chemistry. 69 (2023) 1 - p. 17-20 , 2023

Link: https://doi.org/10.1093/..

6

Case Report: Clinical delineation of CACNA1D mutation: New ..:

Alzahrani, Alshaimaa ; Alshalan, Maha ; Alfurayh, Mohammed...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

7

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Brain. 146 (2023) 12 - p. 5031-5043 , 2023

Link: https://doi.org/10.1093/..

8

A founder DBR1 variant causes a lethal form of congenital i..:

Shamseldin, Hanan E. ; Sadagopan, Mukunth ; Martini, Javier...
Human Genetics. 142 (2023) 10 - p. 1491-1498 , 2023

Link: https://doi.org/10.1007/..

9

Continuous supernumerary teeth development in cleidocranial..:

Joueidi, Faisal ; Joueidi, Ahmad ; Nusair, Yanal..
Advances in Oral and Maxillofacial Surgery. 12 (2023) - p. 100452 , 2023

Link: https://doi.org/10.1016/..

10

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi..:

Alfadhel, Majid ; Abadel, Basma ; Almaghthawi, Hind...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

11

Loss of FOCAD, operating via the SKI messenger RNA surveill..:

Moreno Traspas, Ricardo ; Teoh, Tze Shin ; Wong, Pui-Mun...
Nature Genetics. 54 (2022) 8 - p. 1214-1226 , 2022

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

12

A reverse genetics and genomics approach to gene paralog fu..:

Marafi, Dana ; Kozar, Nina ; Duan, Ruizhi...
The American Journal of Human Genetics. 109 (2022) 9 - p. 1713-1723 , 2022

Link: https://doi.org/10.1016/..

13

The variant artificial intelligence easy scoring (VARIES) s..:

Aloraini, Taghrid ; Aljouie, Abdulrhman ; Alniwaider, Rashed...
Computers in Biology and Medicine. 145 (2022) - p. 105492 , 2022

Link: https://doi.org/10.1016/..

14

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/..

15

DeepSVP: integration of genotype and phenotype for structur..:

Althagafi, Azza ; Alsubaie, Lamia ; Kathiresan, Nagarajan...
Bioinformatics. 38 (2021) 6 - p. 1677-1684 , 2021

Link: https://doi.org/10.1093/..