Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Hans J. Stoop"'
Autor:
Dick Tibboel, Wei Yan, Rutger W W Brouwer, Tono Djuwantono, Qing Lyu, Alice S. Brooks, Erwin Brosens, Alan J. Burns, Karen L. de Mesy Bentley, Joke B. G. M. Verheij, Hans J. Stoop, Suowen Xu, Christine K. Christie, Maria M. Alves, Joseph M. Miano, Daniel Oliver, Orazio J. Slivano, Vivek Nanda, Wilfred F. J. van IJcken, Zheng Gen Jin, Michael Doukas, Michael P. Wilson, Danny Halim, Robert M.W. Hofstra, Yu Han
Publikováno v:
Proceedings of the National Academy of Sciences of the U.S.A., 114(13), E2739-E2747. National Academy of Sciences
Proceedings of the National Academy of Science of the United States of America, 114(13), E2739-E2747. NATL ACAD SCIENCES
Proceedings of the National Academy of Science of the United States of America, 114(13), E2739-E2747. NATL ACAD SCIENCES
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc548a35984283da87acebfc178921d
https://pure.eur.nl/en/publications/4acfe589-9d42-4512-97f7-5fce3f8c06cb
https://pure.eur.nl/en/publications/4acfe589-9d42-4512-97f7-5fce3f8c06cb
Autor:
Michael F. Wangler, Alan J. Burns, Robert M.W. Hofstra, Erwin Brosens, Zeynep Coban Akdemir, Rutger W W Brouwer, Maria M. Alves, James R. Lupski, Michael Doukas, Wilfred F. J. van IJcken, Jonathan Rosenblatt, Françoise Muller, Bianca M. de Graaf, Jean-François Oury, Dick Tibboel, Hans J. Stoop, Arthur L. Beaudet, Danny Halim
Publikováno v:
American Journal of Human Genetics, 101(1), 123-129. Cell Press
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. To date, three genes are known to be involved in MMIHS pathogenesis: ACTG2, MY
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557b9e07a52e522870397539df3cbc15
https://pure.eur.nl/en/publications/acf7d892-dd50-421e-8ca4-cad7255a8425
https://pure.eur.nl/en/publications/acf7d892-dd50-421e-8ca4-cad7255a8425