Որոնման արդյունքները - Muhammad Talal Alrifai
- Ցուցադրվում են 1 - 4 արդյունքները 4
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1
<scp> <i>EMC10</i> </scp> homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay Muhammad Umair, Mariam Ballow, Abdulaziz Asiri, Yusra Alyafee, Abeer Al Tuwaijri, Kheloud M. Alhamoudi, Taghrid Aloraini, Marwa Abdelhakim, Azza Althagafi, Şenay Kafkas, Lamia Alsubaie, Muhammad Talal Alrifai, Robert Hoehndorf, Ahmed Alfares, Majid Alfadhel
Հրապարակվել է 2020Artigo -
2
Targeted <i>SLC19A3</i> gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening Majid Alfadhel, Muhammad Umair, Bader Almuzzaini, Saif Alsaif, Sulaiman Almohaimeed, Maher A. Almashary, W. Alharbi, Latifah Alayyar, Abdulrahman Alasiri, Mariam Ballow, Abdulkareem AlAbdulrahman, Monira Alaujan, Marwan Nashabat, Ali Al‐Odaib, Waleed Altwaijri, Ahmed Al‐Rumayyan, Muhammad Talal Alrifai, Ahmed Alfares, Mohammed Al Balwi, Brahim Tabarki
Հրապարակվել է 2019Artigo -
3
Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia Fahad A. Bashiri, Sultan Al Johani, Muddathir H. Hamad, Amal Y. Kentab, Ali H. Alwadei, Khalid Hundallah, Hamdi Hasan, Walaa Alshuaibi, Lamyaa Jad, Muhammad Talal Alrifai, Abrar Hudairi, Rana Al Sheikh, Asma'a Alenizi, Nawaf A. Alharthi, Tayseer A. M. Abdelmagid, Duaa Baarmah, Mustafa A. Salih, Brahim Tabarki
Հրապարակվել է 2020Artigo -
4
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies Emma Webb, Angham Almutair, Daniel Kelberman, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, Cynthia L. Andoniadou, Abdul Banyan, Al Alsawaid, Muhammad Talal Alrifai, Mohammed Al Balwi, Mohammed Al Balwi, Seyedeh Neda Mousavy-Gharavy, Biljana Lukovic, Derek Burke, Mark J. McCabe, Tessa Kasia, Robert Kleta, Elia Stupka, Philip L. Beales, Dorothy Thompson, W.K. Chong, Fowzan S. Alkuraya, Juan Pedro Martı́nez-Barberá, Jane C. Sowden, Mehul Dattani
Հրապարակվել է 2013Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Medicine
Exome sequencing
Gene
Genetics
Mutation
Pediatrics
Bioinformatics
Computational biology
Diabetes insipidus
Disease gene identification
Encephalopathy
Endocrinology
Exome
Frameshift mutation
Global developmental delay
Hypopituitarism
Intensive care medicine
Internal medicine
Medical emergency
Microcephaly
Missense mutation
Multicenter study
Newborn screening
Nonsense mutation
Phenotype
Psychiatry
Randomized controlled trial
Sanger sequencing
Surgery