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Majid Alfadhel
AD Scientific Index 2024
Natural Sciences / Molecular Biology & Genetics
King Saud bin Abdulaziz University for Health Sciences - / Saudi Arabia
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Majid Alfadhel's MOST POPULAR ARTICLES
1-)
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, ...Nature genetics 40 (4), 443-448, 20084382008
2-)
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous familiesAM Alazami, N Patel, HE Shamseldin, S Anazi, MS Al-Dosari, F Alzahrani, ...Cell reports 10 (2), 148-161, 20153772015
3-)
Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesD Trujillano, AM Bertoli-Avella, K Kumar Kandaswamy, MER Weiss, ...European Journal of Human Genetics 25 (2), 176-182, 20172852017
4-)
Exome sequencing and the management of neurometabolic disordersM Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ...New England Journal of Medicine 374 (23), 2246-2255, 20163132016
5-)
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesD Monies, M Abouelhoda, M AlSayed, Z Alhassnan, M Alotaibi, H Kayyali, ...Human genetics 136, 921-939, 20172662017
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