E-LIB Suche - Ergebnisse für: Alfares, Ahmed

1

Untargeted metabolomics reveals novel biomarkers and altere..:

Alodaib, Ahmad ; Alotaibi, Abeer ; AlMalki, Reem...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108279 , 2024

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

2

Prospect of genetic disorders in Saudi Arabia:

Alqahtani, Amerh S. ; Alotibi, Raniah S. ; Aloraini, Taghrid...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

3

The diagnostic yield of CGH and WES in neurodevelopmental d..:

Alotibi, Raniah S. ; Sannan, Naif S. ; AlEissa, Mariam...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

4

Cerebral autosomal recessive arteriopathy with subcortical ..:

Shirah, Bader ; Algahtani, Hussein ; Algahtani, Raghad..
Journal of Stroke and Cerebrovascular Diseases. 32 (2023) 8 - p. 107225 , 2023

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

5

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine. 24 (2022) 4 - p. 966 , 2022

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

6

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/..

7

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/..

8

Hypospadias in ring X syndrome:

Elghezal, Hatem ; Alfayez, Khowla ; Ben Abdallah, Inesse...
European Journal of Medical Genetics. 64 (2021) 7 - p. 104225 , 2021

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

9

Short stature with low insulin‐like growth factor 1 availab..:

Babiker, Amir ; Al Noaim, Khalid ; Al Swaid, Abdulrahman...
Clinical Genetics. 100 (2021) 5 - p. 601-606 , 2021

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

10

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/..

11

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/..

12

The rate of secondary genomic findings in the Saudi populat..:

Aloraini, Taghrid ; Alsubaie, Lamia ; Alasker, Sarah...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 83-88 , 2021

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

13

Two Novel Homozygous HPS6 Mutations (Double Mutant) Identif..:

Karim, Sajjad ; Saharti, Samah ; Alganmi, Nofe...
Life. 12 (2021) 1 - p. 14 , 2021

Link: https://doi.org/10.3390/..

14

Biallelic variants in HPDL cause pure and complicated hered..:

Wiessner, Manuela ; Maroofian, Reza ; Ni, Meng-Yuan...
Brain. 144 (2021) 5 - p. 1422-1434 , 2021

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

15

Combining exome/genome sequencing with data repository anal..:

Bertoli-Avella, Aida M. ; Kandaswamy, Krishna K. ; Khan, Suliman...
Genetics in Medicine. 23 (2021) 8 - p. 1551-1568 , 2021

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