Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nuphar Rosenfeld"'
Autor:
Ranit Jaron, Reeval Segel, Liran Carmel, Ephrat Levy-Lahad, Paul Renbaum, Fouad Zahdeh, Victoria Doviner, Nuphar Rosenfeld, E. Picard, Shai Carmi, Sharon Zeligson, Liana Beni-Adani
Publikováno v:
Clinical Genetics. 90:540-544
Recessive CRB2 mutations were recently reported to cause both steroid resistant nephrotic syndrome and prenatal onset ventriculomegaly with kidney disease. We report two Ashkenazi Jewish siblings clinically diagnosed with ciliopathy. Both presented w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::462791273d765ad0523432dd49905b04
https://doi.org/10.1111/cge.12764
https://doi.org/10.1111/cge.12764
Autor:
Ori Shen, Lara Kamal, Shachar Zuckerman, Ephrat Levy-Lahad, Tom Walsh, Paul Renbaum, Ron Rabinowitz, Eyal Mazaki, Adi Aran, Nuphar Rosenfeld, Ming Lee, Moien Kanaan, Yoav Kohn, Hila Fridman, Suleyman Gulsuner, Sharon Zeligson, Reeval Segel, Ranit Jaron, Yoram Segev, Mary Claire King
Publikováno v:
Neurology. 86:2016-2024
To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.Identification of the responsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::222508aa56cddd9856756e9b44eb6b9f
https://doi.org/10.1212/wnl.0000000000002704
https://doi.org/10.1212/wnl.0000000000002704