Zobrazeno 1 - 4
of 4
pro vyhledávání: '"van Dijk, Katinke"'
Autor:
Reijnders, Margot R. F., Janowski, Robert, Alvi, Mohsan, Self, Jay E., van Essen, Ton J., Vreeburg, Maaike, Rouhl, Rob P. W., Stevens, Servi J. C., Stegmann, Alexander P. A., Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T. R. M., Bok, Levinus A., Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E., Douzgou, Sofia, Cooper, Nicola S., Tan, Ene-Choo, Foo, Roger, Lai, Angeline H. M., Rankin, Julia, Green, Andrew, Lönnqvist, Tuula, Isohanni, Pirjo, Williams, Shelley, Ruhoy, Ilene, Carvalho, Karen S., Dowling, James J., Lev, Dorit L., Sterbova, Katalin, Lassuthova, Petra, Neupauerova, Jana, Waugh, Jeff L., Keros, Sotirios, Clayton-Smith, Jill, Smithson, Sarah F., Brunner, Han G., van Hoeckel, Ceciel, Anderson, Mel, Clowes, Virginia E., Siu, Victoria Mok, Selber, Paulo, Leventer, Richard J., Nellaker, Christoffer, Niessing, Dierk, DDD Study
Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives T o deline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1593::f7516af59cd6846c7bb29e51b61b13ad
http://hdl.handle.net/10138/233379
http://hdl.handle.net/10138/233379
Autor:
Reijnders, Margot R. F., Janowski, Robert, Alvi, Mohsan, Self, Jay E., van Essen, Ton J., Vreeburg, Maaike, Rouhl, Rob P. W., Stevens, Servi J. C., Stegmann, Alexander P. A., Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T. R. M., Bok, Levinus A., Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E.
Publikováno v:
Journal of Medical Genetics; Feb2018, Vol. 55 Issue 2, p104-113, 10p, 2 Color Photographs, 1 Diagram, 2 Charts
Autor:
Reijnders, Margot R F, Janowski, Robert, Alvi, Mohsan, Self, Jay E, van Essen, Ton J, Vreeburg, Maaike, Rouhl, Rob P W, Stevens, Servi J C, Stegmann, Alexander P A, Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T R M, Bok, Levinus A, Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E, Douzgou, Sofia, Cooper, Nicola S, Tan, Ene-Choo, Foo, Roger, Lai, Angeline H M, Rankin, Julia, Green, Andrew, Lonnqvist, Tuula, Isohanni, Pirjo, Williams, Shelley, Ruhoy, Ilene, Carvalho, Karen S, Dowling, James J, Lev, Dorit L, Sterbova, Katalin, Lassuthova, Petra, Neupauerová, Jana, Waugh, Jeff L, Keros, Sotirios, Clayton-Smith, Jill, Smithson, Sarah F, Brunner, Han G, van Hoeckel, Ceciel, Anderson, Mel, Clowes, Virginia E, Siu, Victoria Mok, DDD study, The, Selber, Paulo, Leventer, Richard J, Nellaker, Christoffer, Niessing, Dierk, Hunt, David, Baralle, Diana
Publikováno v:
Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 2 p104-113, 10p
Publikováno v:
Journal of Perinatal Medicine; Jan1995, Vol. 23 Issue 5, p409-415, 7p