Zobrazeno 1 - 5 of 5 pro vyhledávání: '"Majed J. Dasouki"'
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Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients
Autor: Mohamed H. Al‐Hamed, Maged H. Hussein, Yaser Shah, Hamad Al‐Mojalli, Essam Alsabban, Turki Alshareef, Ali Altayyar, Samir Elshouny, Wafaa Ali, Mai Abduljabbar, Afaf AlOtaibi, Amal AlShammasi, Rana Akili, Mohamed Abouelhoda, John A. Sayer, Majed J. Dasouki, Faiqa Imtiaz
Publikováno v: Human mutationREFERENCES.
The use of genetic testing within nephrology is increasing and its diagnostic yield depends on the methods utilized, patient selection criteria, and population characteristics. We performed exome sequencing (ES) analysis on 102 chronic kidney disease
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b03a47f8ef24eadb656f8e4731bd005f
https://pubmed.ncbi.nlm.nih.gov/36177613
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3
A genomics approach to male infertility
Autor: Fowzan S. Alkuraya, Nour Ewida, Majed J Dasouki, Abdulmalik Mirdawi, Mirna Assoum, Soha A Hamed, Hesham A Deek, Wafa Qabbaj, Waleed Altaweel, Naif Alhathal, Hamed Alali, Mashael Al-Qahtani, Firdous Abdulwahab, Serdar Coskun, Sateesh Maddirevula, Abdullah Mohammed Assiri, Shaheed Alsuhaibani, Thomas Morris, Niema Ibrahim
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 22(12)
Male infertility remains poorly understood at the molecular level. We aimed in this study to investigate the yield of a “genomics first” approach to male infertility. Patients with severe oligospermia and nonobstructive azoospermia were investiga
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a29db9c305bc7850c4a21bfb3f89e1
https://pubmed.ncbi.nlm.nih.gov/32719396
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Plný text Recenzováno Digitální knihovna AV ČR
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