Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Norah Altuwaijri"'
Autor:
Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Mendeliome Group, Fowzan S. Alkuraya
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Abstract Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients, which highlights the need for accurate identification and interpretation of novel vari
Externí odkaz:
https://doaj.org/article/d4f8244eab354a59b6af99779f7a3556
Autor:
Mohamed H. Al‐Hamed, Norah Altuwaijri, Nada Alsahan, Wafaa Ali, Firdous Abdulwahab, Fatema Alzahrani, Nada Majrashi, Fowzan S. Alkuraya
Publikováno v:
Clinical geneticsREFERENCES. 102(1)
Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the urinary tract. Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT. Lo