E-LIB Suche - Ergebnisse für: Al-Shafai, Mashael

1

The genetic basis and the diagnostic yield of genetic testi..:

Alkhidir, Shaza ; El-Akouri, Karen ; Al-Dewik, Nader...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

2

Identification of KSR2 Variants in Pediatric Patients with ..:

Abu-Rub, Lubna I. ; Al-Barazenji, Tara ; Abiib, Sumaya...
Genes. 15 (2024) 8 - p. 966 , 2024

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

3

The landscape of genetic variations in non-syndromic primar..:

Allouch, Asma ; Al-Barazenji, Tara ; Al-Shafai, Mashael.
Frontiers in Endocrinology. 14 (2024) - p. , 2024

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

4

Qatar's Genetic Counseling Landscape: Current Insights and ..:

Abiib, Sumaya ; Khodjet-El-khil, Houssein ; El-Akouri, Karen...
Genetics in Medicine Open. , 2024

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

5

The role of genetic and epigenetic GNAS alterations in the ..:

Abbas, Alaa ; Hammad, Ayat S ; Al-Shafai, Mashael
Mutation Research - Reviews in Mutation Research. 793 (2024) - p. 108487 , 2024

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

6

Understanding the Genetics of Early-Onset Obesity in a Coho..:

Mohammed, Idris ; Haris, Basma ; Al-Barazenji, Tara...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 12 - p. 3201-3213 , 2023

Link: https://doi.org/10.1210/..

7

Association of Vitamin D Genetic Risk Score with Noncommuni..:

Almaghrbi, Heba ; Al-Shafai, Mashael ; Al-Asmakh, Maha.
Nutrients. 15 (2023) 18 - p. 4040 , 2023

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

8

Genetic epidemiology of Woodhouse-Sakati Syndrome in the Gr..:

Kohil, Amira ; Abdallah, Atiyeh M. ; Hussain, Khalid.
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

9

Functional Characterization of Novel MC4R Variants Identifi..:

Mohammed, Idris ; Selvaraj, Senthil ; Ahmed, Wesam S....
International Journal of Molecular Sciences. 24 (2023) 22 - p. 16361 , 2023

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

10

Legal approaches to risk of harm in genetic counseling: per..:

Patrinos, Dimitri ; Ghaly, Mohammed ; Al-Shafai, Mashael.
Frontiers in Genetics. 14 (2023) - p. , 2023

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

11

Prevalence and Genotype-Phenotype Correlation of Lynch Synd..:

Sidenna, Mariem ; Khodjet-El-khil, Houssein ; Al Mulla, Hajar...
Genes. 13 (2022) 11 - p. 2176 , 2022

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

12

The Spectrum of Genetic Variants Associated with the Develo..:

AbouHashem, Nadien ; Zaied, Roan E. ; Al-Shafai, Kholoud...
Obesity Facts. 15 (2022) 3 - p. 357-365 , 2022

Link: https://doi.org/10.1159/..

13

A population study of clinically actionable genetic variati..:

Jithesh, Puthen Veettil ; Abuhaliqa, Mohammed ; Syed, Najeeb...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

14

Investigation of Genetic Causes in Patients with Congenital..:

Okashah, Sarah ; Vasudeva, Dhanya ; El Jerbi, Aya...
Genes. 13 (2022) 8 - p. 1369 , 2022

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

15

The genetic elucidation of monogenic obesity in the Arab wo..:

AbouHashem, Nadien ; Al-Shafai, Kholoud ; Al-Shafai, Mashael
Journal of Pediatric Endocrinology and Metabolism. 35 (2022) 6 - p. 699-707 , 2022

Link: https://doi.org/10.1515/..