Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Vanessa C. Uma"'
Autor:
Jill A. Rosenfeld, Mir Reza Bekheirnia, Ian D. Krantz, Suneeta Madan-Khetarpal, Angela E. Scheuerle, Dolores J. Lamb, David Rodriguez-Buritica, Nasim Bekheirnia, Aisha Al Shamsi, Yaping Yang, Ghayda M. Mirzaa, Yuxiao Xu, Rachel K. Miller, Mauricio R. Delgado, Patricia G. Wheeler, Matthew N. Bainbridge, Natalia Gomez-Ospina, Helen Rankin Willsey, Mark E. Corkins, Alexandria T.M. Blackburn, Lihadh Al-Gazali, Michael C. Braun, Pengfei Liu, Vanessa C. Uma, Mary K. Kukolich, Louanne Hudgins, Hsiao-Tuan Chao, Fernando Scaglia, Christine M. Eng
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants. Methods: A
Autor:
Mir Reza Bekheirnia, Ian D. Krantz, Suneeta Madan-Khetarpal, David Rodriguez-Buritica, Lihadh Al-Gazali, Louanne Hudgins, Hsiao-Tuan Chao, Rachel K. Miller, Matthew N. Bainbridge, Christine M. Eng, Fernando Scaglia, Patricia G. Wheeler, Mary K. Kukolich, Ghayda M. Mirzaa, Michael C. Braun, Natalia Gomez-Ospina, Alexandria T.M. Blackburn, Nasim Bekheirnia, Yaping Yang, Vanessa C. Uma, Mauricio R. Delgado, Angela E. Scheuerle, Dolores J. Lamb, Jill A. Rosenfeld, Pengfei Liu, Aisha Al Shamsi
PurposeHaploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A mutations.MethodsA lar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e209a48169ae093584c2cbea33d9a867