Výsledky vyhledávání - Bianca M. de Graaf
- Zobrazuji výsledky 1 - 5 z 5
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1
ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux Autor Aida M. Bertoli‐Avella, Maria Luisa Conte, Francesca Punzo, Bianca M. de Graaf, Giuliana Lama, Angela La Manna, Cesare Polito, Carolina Grassia, Brúno Nobili, Pier Francesco Rambaldi, Ben A. Oostra, Silverio Perrotta
Vydáno 2008Artigo -
2
A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia Autor John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat‐Kievit, Peter A. J. Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink
Vydáno 2003Artigo -
3
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Autor Danny Halim, Erwin Brosens, Françoise Müller, Michael F. Wangler, Arthur L. Beaudet, James R. Lupski, Zeynep H. Coban Akdemir, Michael Doukas, Hans Stoop, Bianca M. de Graaf, Rutger W. W. Brouwer, Wilfred F. J. van IJcken, Jean‐François Oury, Jonathan Rosenblatt, Alan J. Burns, Dick Tibboel, Robert M.W. Hofstra, Maria M. Alves
Vydáno 2017Artigo -
4
<i>NPHP4</i> Variants Are Associated With Pleiotropic Heart Malformations Autor Vanessa French, Ingrid M.B.H. van de Laar, Marja W. Wessels, Christan F. Rohé, Jolien W. Roos‐Hesselink, Guangliang Wang, Ingrid M.E. Frohn-Mulder, Lies‐Anne Severijnen, Bianca M. de Graaf, Rachel Schot, Guido J. Breedveld, Edwin Mientjes, Marianne van Tienhoven, Elodie Jadot, Zhengxin Jiang, Annemieke J.M.H. Verkerk, Sigrid M.A. Swagemakers, Hanka Venselaar, Zohreh Rahimi, Hossein Najmabadi, Hanne Meijers-Heijboer, Esther de Graaff, Wim A. Helbing, Rob Willemsen, Koenraad Devriendt, John W. Belmont, Ben A. Oostra, Jeffrey D. Amack, Aida M. Bertoli‐Avella
Vydáno 2012Artigo -
5
Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections Autor Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M.A. Verhagen, Bianca M. de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P. T. Kruithof, Hanka Venselaar, Loretha Myers, Steven Laga, Alexander Doyle, Gretchen Oswald, Gert W. A. van Cappellen, Itaru Yamanaka, R.M. van der Helm, Berna Beverloo, Annelies de Klein, Luba M. Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T. Brüggenwirth, Frans W. Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M. Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert M.W. Hofstra, Marie‐José Goumans, Jos A. Bekkers, Jolien W. Roos‐Hesselink, Ingrid M.B.H. van de Laar, Harry C. Dietz, Lut Van Laer, Takayuki Morisaki, Marja W. Wessels, Bart Loeys
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Medicine
Biology
Gene
Genetics
Internal medicine
Mutation
Neuroscience
Anatomy
Aneurysm
Aorta
Aortic aneurysm
Aortic dissection
Aortic valve
Ataxia
Bicuspid aortic valve
Cardiology
Ciliogenesis
Cilium
Denaturing high performance liquid chromatography
Dextrocardia
Disease
Embryonic stem cell
Endocrinology
Exon
Fibroblast growth factor
Genitourinary system
Heart disease
Heterotaxy
Hydronephrosis
Intron