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M

Mohammed Almannai

Ministry of National Guard Health Affairs
H指数:25
被引数:1,796

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Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families
journal of clinical & translational endocrinology
IF0
2026-02-040
OAAI
Ibrahim Al Alwan; Raja Hussain Ali; Muhammad Umair; Imran Ali Khan; Nada Alotaibi; Essra Aloyouni; Deemah Alwadaani; Latifah Alayyar; Shahad Haddad; Shahad Alawaji; Saleh Althenayyan; Ahmed Alfaidi; Manal Algattan; Ali S. Alquraishi; Abdullah Alzaben; Haifa Alfaraidi; Beshaier Almulhem; Mohammed Almannai; Majid Alfadhel
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
Brain
IF11.7
2026-01-020
PRE
Johanna R Roller; Ashraf Yahia; Giovanni Stevanin; Ammar E Ahmed; Amna M T Alawadhi; Mohammed Almannai; Maryam Y Busehail; Alexander H Choi; Ali A Elhassan; Liena E O Elsayed; Christina Goode; Lauren H Hammer; Christina Laukaitis; Amber Begtrup; Rachel A Paul; Jasmin Roohi; Hoda Y Tomoum; Peter Bauer; Ludger Schöls; Jorge P Basto; Matthis Synofzik; Holger Hengel
Adult genomic medicine: lessons from a multisite study of 2700 patients

成人基因组医学：来自一项涉及2700名患者的多中心研究的经验教训

Genome Medicine
IF11.2
2025-09-300
OAAI
Khadijah Bakur; Halima Hamid; Bader Alhaddad; Majid Alfadhel; Amal Alhashem; Wafaa Eyaid; Talal Alanzi; Fuad Al Mutairi; Abdulrahman Alswaid; Farouq Ababneh; Malak Al Ghamdi; Sarar Mohamed; Ahmed Alaskar; Farjah Alqahtani; Hamad Alzaidan; Mohammed Al-Owain; Eissa A. Faqeih; Aziza M. Mushiba; Rola Alanazi; Basamat Almoallem; Norah Saleh Alsaleh; Saeed Al Tala; Muneera Alshammari; Alyazeed Turkistani; Ghadah Gosadi; Fahad Hakami; Fahad Alobaid; Hadeel Al Rukban; Ahmed Alfaidi; Rola Ba-Abbad; Mohammed A. Almuqbil; Ahmad Al-Boukai; Abdulrahman Saad Alamri; Ali Alshehri; Raashda A. Sulaiman; Ali Almontasheri; Enam Danish; Afaf AlSagheir; Deema Aljeaid; Bashayer S. Al-Awam; Aiman Shawli; Maha Al-Otaibi; Wed Sameer Majdali; Zohor Asaad Azher; Mohammed Almannai; Wail Baalawi; Lama AlAbdi; Touati Benoukraf; Fowzan S. Alkuraya
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh; Saudi Arabia: A 2 Years Cross-Sectional Study

近亲婚配与单基因疾病发生情况：沙特阿拉伯利雅得单一三级中心2年横断面研究

application of clinical genetics
IF0
2024-10-030
OAAI
Lamia K Alshamlani; Dana S Alsulaim; Raghad S Alabbad; Ahad A Alhoshan; Joud F Alkhoder; Norah S Alsaleh; Mohammed Almannai; Faroug Ababneh; Manal Algattan; Lojain Alsini; Abdulrahman Faiz Alswaid; Wafaa M Eyaid; Fuad Al Mutairi; Muhammad Umair; Majid Alfadhel
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
PEDIATRIC NEUROLOGY
IF2.1
2024-06-010
PRE
Saleh, Mohammed M.; Hamhom, Abdulrahim M.; Al-Otaibi, Ali; Alghamdi, Malak; Housawi, Yousef; Aljadhai, Yaser I.; Alameer, Seham; Almannai, Mohammed; Jad, Lamyaa A.; Alwadei, Ali H.; Tabassum, Sadia; Alsaman, Abdulaziz; Alasmari, Ali; Al Mutairi, Fuad; Althiyab, Hamad; Bashiri, Fahad A.; Alhumaidi, Suzan; Alfadhel, Majid; Mink, Jonathan W.; Alhashim, Aqeela; Faqeih, Eissa A.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-04-0131
OAAI
Broly, Martin; Polevoda, Bogdan, V; Awayda, Kamel M.; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; Alkuraya, Fowzan S.; Leon, Alberta; van Loon, Rosa L. E.; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Lim, Sze Chern; Pais, Lynn S.; Brown, Natasha; Riazuddin, Saima; Bezieau, Stephane; Fu, Dragony; Isidor, Bertrand; Cogne, Benjamin; O'Connell, Mitchell R.
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-10-1122
OAAI
Alfadhel, Majid; Nashabat, Marwan; Saleh, Mohammed; Elamin, Mohammed; Alfares, Ahmed; Al Othaim, Ali; Umair, Muhammad; Ahmed, Hind; Ababneh, Faroug; Al Mutairi, Fuad; Eyaid, Wafaa; Alswaid, Abdulrahman; Alohali, Lina; Faqeih, Eissa; Almannai, Mohammed; Aljeraisy, Majed; Albdah, Bayan; Hussein, Mohamed A.; Rahbeeni, Zuhair; Alasmari, Ali
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
GENETICS IN MEDICINE
IF6.2
2020-12-017
OAAI
Alharby, Essa; Faqeih, Eissa A.; Saleh, Mohammed; Alameer, Seham; Almuntashri, Makki; Pastore, Annalisa; Samman, Manar A.; Alnawfal, Abdullah M.; Hashem, Mais; Zaytuni, Dimah; Alharbi, Ghadeer; Almannai, Mohammed; Alasmari, Ali; Mahmoud, Adel A.; Alwadei, Ali H.; Jad, Lamya; AlOtaibi, Ali; Al-Hakami, Fahad; Eyaid, Wafaa; Alkuraya, Fowzan S.; Alfadhel, Majid; Peake, Roy W. A.; Almontashiri, Naif A. M.

研究方向

暂未获取到该数据
A
Ayman W. El‐Hattab
H 指数:46论文数:167被引数:6,298
M
Majid Alfadhel
H 指数:45论文数:277被引数:7,653
E
Eissa Faqeih
H 指数:51论文数:184被引数:7,557
F
Fernando Scaglia
H 指数:68论文数:303被引数:1.5万
F
Fowzan S. Alkuraya
H 指数:88论文数:819被引数:2.9万
W
Wafaa Eyaid
H 指数:36论文数:105被引数:5,537
J
Jill A. Rosenfeld
H 指数:93论文数:621被引数:3.0万
F
Fuad Al Mutairi
H 指数:26论文数:95被引数:2,951
A
Amal Alhashem
H 指数:38论文数:158被引数:5,233
M
Mohammed A. Saleh
H 指数:14论文数:62被引数:1,026