Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Tim Rügenbrink"'
Autor:
Katherine C. MacKenzie, Rhiana Garritsen, Rajendra K. Chauhan, Yunia Sribudiani, Bianca M. de Graaf, Tim Rugenbrink, Rutger Brouwer, Wilfred F. J. van Ijcken, Ivo de Blaauw, Alice S. Brooks, Cornelius E. J. Sloots, Conny J. H. M. Meeuwsen, René M. Wijnen, Donald F. Newgreen, Alan J. Burns, Robert M. W. Hofstra, Maria M. Alves, Erwin Brosens
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 22, p 12354 (2021)
Patients with Hirschsprung disease (HSCR) do not always receive a genetic diagnosis after routine screening in clinical practice. One of the reasons for this could be that the causal mutation is not present in the cell types that are usually tested
Externí odkaz:
https://doaj.org/article/f7f6764065824070b5f3079e8362a7e4
Autor:
Tara D. Wabbersen, Rutger W W Brouwer, Tim Rügenbrink, Erwin Brosens, Jan Osinga, Saskia M. Maas, Colin Harrison, Annelies de Klein, Yunia Sribudiani, Wilfred F. J. van IJcken, Iain T. Shepherd, Maria M. Alves, Lucy Petrova, Bart J. L. Eggen, Alan J. Burns, Rajendra K. Chauhan, Bianca M. de Graaf, Alice S. Brooks, Robert M.W. Hofstra, Grzegorz M. Burzynski
Publikováno v:
Gastroenterology, 155(1), 118-129.e6. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology, 155(1), 118-129.e6. W.B. Saunders Ltd
Gastroenterology, 155(1), 118-+. W.B. Saunders
Gastroenterology, 155(1), 118-129.e6. W.B. Saunders Ltd
Gastroenterology, 155(1), 118-+. W.B. Saunders
BACKGROUND & AIMS: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35%