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	1.	A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? [electronic resource] by Brusse, Esther Majoor-Krakauer, Danielle de Graaf, Bianca M Visser, Gerhard H Swagemakers, Sigrid Boon, Agnita J W Oostra, Ben A Bertoli-Avella, Aida M Producer: 20091207 In: Neurogenetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity. [electronic resource] by Conte, Maria Luisa Bertoli-Avella, Aida M de Graaf, Bianca M Punzo, Francesca Lama, Giuliana La Manna, Angela Grassia, Carolina Rambaldi, Pier Francesco Oostra, Ben A Perrotta, Silverio Producer: 20080626 In: Pediatric nephrology (Berlin, Germany) vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling. [electronic resource] by Widowati, Titis Melhem, Shamiram Patria, Suryono Y de Graaf, Bianca M Sinke, Richard J Viel, Martijn Dijkhuis, Jos Sadewa, Ahmad H Purwohardjono, Rochadi Soenarto, Yati Hofstra, Robert Mw Sribudiani, Yunia Producer: 20170726 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. [electronic resource] by van Swieten, John C Brusse, Esther de Graaf, Bianca M Krieger, Elmar van de Graaf, Raoul de Koning, Inge Maat-Kievit, Anneke Leegwater, Peter Dooijes, Dennis Oostra, Ben A Heutink, Peter Producer: 20030221 In: American journal of human genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	ROBO2 gene variants are associated with familial vesicoureteral reflux. [electronic resource] by Bertoli-Avella, Aida M Conte, Maria Luisa Punzo, Francesca de Graaf, Bianca M Lama, Giuliana La Manna, Angela Polito, Cesare Grassia, Carolina Nobili, Bruno Rambaldi, Pier Francesco Oostra, Ben A Perrotta, Silverio Producer: 20080528 In: Journal of the American Society of Nephrology : JASN vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. [electronic resource] by Alves, Maria M Halim, Danny Maroofian, Reza de Graaf, Bianca M Rooman, Raoul van der Werf, Christine S Van de Vijver, Els Mehrjardi, Mohammad Yv Aflatoonian, Majid Chioza, Barry A Baple, Emma L Dehghani, Mohammadreza Crosby, Andrew H Hofstra, Robert Mw Producer: 20170707 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction. [electronic resource] by Wessels, Marja W van de Laar, Ingrid M B H Roos-Hesselink, Jolien Strikwerda, Sipke Majoor-Krakauer, Danielle F de Vries, Bert B A Kerstjens-Frederikse, Wilhelmina S Vos, Yvonne J de Graaf, Bianca M Bertoli-Avella, Aida M Willems, Patrick J Producer: 20090406 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. [electronic resource] by Halim, Danny Brosens, Erwin Muller, Françoise Wangler, Michael F Beaudet, Arthur L Lupski, James R Akdemir, Zeynep H Coban Doukas, Michael Stoop, Hans J de Graaf, Bianca M Brouwer, Rutger W W van Ijcken, Wilfred F J Oury, Jean-François Rosenblatt, Jonathan Burns, Alan J Tibboel, Dick Hofstra, Robert M W Alves, Maria M Producer: 20170802 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease. [electronic resource] by Sribudiani, Yunia Chauhan, Rajendra K Alves, Maria M Petrova, Lucy Brosens, Erwin Harrison, Colin Wabbersen, Tara de Graaf, Bianca M Rügenbrink, Tim Burzynski, Grzegorz Brouwer, Rutger W W van IJcken, Wilfred F J Maas, Saskia M de Klein, Annelies Osinga, Jan Eggen, Bart J L Burns, Alan J Brooks, Alice S Shepherd, Iain T Hofstra, Robert M W Producer: 20180820 In: Gastroenterology vol. 155 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. [electronic resource] by Wessels, Marja W De Graaf, Bianca M Cohen-Overbeek, Titia E Spitaels, Silja E de Groot-de Laat, Lotte E Ten Cate, Folkert J Frohn-Mulder, Ingrid F M de Krijger, Ronald Bartelings, Margot M Essed, Nienke Wladimiroff, Jury W Niermeijer, Martinus F Heutink, Peter Oostra, Ben A Dooijes, Dennis Bertoli-Avella, Aida M Willems, Patrick J Producer: 20080430 In: Human genetics vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. [electronic resource] by van de Laar, Ingrid M B H Oldenburg, Rogier A Pals, Gerard Roos-Hesselink, Jolien W de Graaf, Bianca M Verhagen, Judith M A Hoedemaekers, Yvonne M Willemsen, Rob Severijnen, Lies-Anne Venselaar, Hanka Vriend, Gert Pattynama, Peter M Collée, Margriet Majoor-Krakauer, Danielle Poldermans, Don Frohn-Mulder, Ingrid M E Micha, Dimitra Timmermans, Janneke Hilhorst-Hofstee, Yvonne Bierma-Zeinstra, Sita M Willems, Patrick J Kros, Johan M Oei, Edwin H G Oostra, Ben A Wessels, Marja W Bertoli-Avella, Aida M Producer: 20110331 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	NPHP4 variants are associated with pleiotropic heart malformations. [electronic resource] by French, Vanessa M van de Laar, Ingrid M B H Wessels, Marja W Rohe, Christan Roos-Hesselink, Jolien W Wang, Guangliang Frohn-Mulder, Ingrid M E Severijnen, Lies-Anne de Graaf, Bianca M Schot, Rachel Breedveld, Guido Mientjes, Edwin van Tienhoven, Marianne Jadot, Elodie Jiang, Zhengxin Verkerk, Annemieke Swagemakers, Sigrid Venselaar, Hanka Rahimi, Zohreh Najmabadi, Hossein Meijers-Heijboer, Hanne de Graaff, Esther Helbing, Wim A Willemsen, Rob Devriendt, Koen Belmont, John W Oostra, Ben A Amack, Jeffrey D Bertoli-Avella, Aida M Producer: 20120813 In: Circulation research vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. [electronic resource] by van de Laar, Ingrid M B H van der Linde, Denise Oei, Edwin H G Bos, Pieter K Bessems, Johannes H Bierma-Zeinstra, Sita M van Meer, Belle L Pals, Gerard Oldenburg, Rogier A Bekkers, Jos A Moelker, Adriaan de Graaf, Bianca M Matyas, Gabor Frohn-Mulder, Ingrid M E Timmermans, Janneke Hilhorst-Hofstee, Yvonne Cobben, Jan M Bruggenwirth, Hennie T van Laer, Lut Loeys, Bart De Backer, Julie Coucke, Paul J Dietz, Harry C Willems, Patrick J Oostra, Ben A De Paepe, Anne Roos-Hesselink, Jolien W Bertoli-Avella, Aida M Wessels, Marja W Producer: 20120410 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. [electronic resource] by Bertoli-Avella, Aida M Gillis, Elisabeth Morisaki, Hiroko Verhagen, Judith M A de Graaf, Bianca M van de Beek, Gerarda Gallo, Elena Kruithof, Boudewijn P T Venselaar, Hanka Myers, Loretha A Laga, Steven Doyle, Alexander J Oswald, Gretchen van Cappellen, Gert W A Yamanaka, Itaru van der Helm, Robert M Beverloo, Berna de Klein, Annelies Pardo, Luba Lammens, Martin Evers, Christina Devriendt, Koenraad Dumoulein, Michiel Timmermans, Janneke Bruggenwirth, Hennie T Verheijen, Frans Rodrigus, Inez Baynam, Gareth Kempers, Marlies Saenen, Johan Van Craenenbroeck, Emeline M Minatoya, Kenji Matsukawa, Ritsu Tsukube, Takuro Kubo, Noriaki Hofstra, Robert Goumans, Marie Jose Bekkers, Jos A Roos-Hesselink, Jolien W van de Laar, Ingrid M B H Dietz, Harry C Van Laer, Lut Morisaki, Takayuki Wessels, Marja W Loeys, Bart L Producer: 20150604 In: Journal of the American College of Cardiology vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)