E-LIB Suche - Ergebnisse für: Fakhro, Khalid A

1

Deciphering the complex interplay of obesity, epithelial ba..:

AlMarzooqi, Sara K. ; Almarzooqi, Fajr ; Sadida, Hana Q....
Obesity Reviews. 25 (2024) 8 - p. , 2024

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

2

Integrating Genome Sequencing and Untargeted Metabolomics i..:

Shaath, Rulan ; Al-Maraghi, Aljazi ; Ali, Haytham...
Metabolites. 14 (2024) 3 - p. 152 , 2024

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

3

Increasing the diagnostic yield of childhood glaucoma cases..:

Al-Saei, Omayma ; Malka, Samantha ; Owen, Nicholas...
BMC Genomics. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

4

Rare variants at KCNJ2 are associated with LDL-cholesterol ..:

Rossi, Niccolò ; Syed, Najeeb ; Visconti, Alessia...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

5

A loss-of-function AGTR1 variant in a critically-ill infant..:

Al-Maraghi, Aljazi ; Aamer, Waleed ; Ziab, Mubarak...
BMC Nephrology. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

6

Conserved genes regulating human sex differentiation, gamet..:

Fakhro, Khalid A. ; Awwad, Johnny ; Garibova, Suma..
Journal of Translational Medicine. 22 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

7

Genetic background of primary and familial HLH in Qatar: re..:

Elgaali, Elkhansa ; Mezzavilla, Massimo ; Ahmed, Ikhlak...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

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

8

P026: The genetic spectrum of treatable inherited metabolic..:

Gandhi, Geethanjali Devadoss ; Syed, Najeeb ; Vempalli, Fazulur...
Genetics in Medicine Open. 2 (2024) - p. 100903 , 2024

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

9

Equity, diversity, and inclusion at the Global Alliance for..:

Skantharajah, Neerjah ; Baichoo, Shakuntala ; Boughtwood, Tiffany F....
Cell Genomics. 3 (2023) 10 - p. 100386 , 2023

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

10

A variant in sperm‐specific glycolytic enzyme enolase 4 (EN..:

Nawaz, Shoaib ; Hussain, Shabir ; Bilal, Muhammad...
The Journal of Gene Medicine. 26 (2023) 1 - p. , 2023

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

11

The link between glycemic control measures and eye microvas..:

Da'as, Sahar I. ; Ahmed, Ikhlak ; Hasan, Waseem H....
Journal of Translational Medicine. 21 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

12

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in..:

Al-Kurbi, Alya A. ; Aliyev, Elbay ; AlSa'afin, Sana...
Genes. 14 (2023) 4 - p. 849 , 2023

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

13

A GHRHR founder mutation causes isolated growth hormone def..:

Ahmad, Safeer ; Ali, Muhammad Zeeshan ; Abbasi, Sumra Wajid...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

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

14

Validation of plasma protein glycation and oxidation biomar..:

Al-Saei, Aisha Nasser J. M. ; Nour-Eldine, Wared ; Rajpoot, Kashif...
Molecular Psychiatry. 29 (2023) 3 - p. 653-659 , 2023

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

15

A novel homozygous variant in homologous recombination repa..:

Hussain, Shah ; Nawaz, Shoaib ; Khan, Ihsan...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104629 , 2022

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