Your search returned 30 results.

Results
	1.	Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. [electronic resource] by Jongmans, Marjolijn Sistermans, Erik A Rikken, Alwin Nillesen, Willy M Tamminga, Rienk Patton, Michael Maier, Esther M Tartaglia, Marco Noordam, Kees van der Burgt, Ineke Producer: 20050627 In: American journal of medical genetics. Part A vol. 134A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes. [electronic resource] by Brugman, Frans Scheffer, Hans Schelhaas, H Jurgen Nillesen, Willy M Wokke, John H J van de Warrenburg, Bart P C van den Berg, Leonard H Producer: 20090821 In: Journal of neurology vol. 256 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. [electronic resource] by Runtuwene, Vincent van Eekelen, Mark Overvoorde, John Rehmann, Holger Yntema, Helger G Nillesen, Willy M van Haeringen, Arie van der Burgt, Ineke Burgering, Boudewijn den Hertog, Jeroen Producer: 20110830 In: Disease models & mechanisms vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. [electronic resource] by Koolen, David A Knoers, Nine V A M Nillesen, Willy M Slabbers, Gordon H P R Smeets, Dominique de Leeuw, Nicole Sistermans, Erik A de Vries, Bert B A Producer: 20060123 In: European journal of human genetics : EJHG vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature. [electronic resource] by Kleefstra, Tjitske de Leeuw, Nicole Wolf, Roy Nillesen, Willy M Schobers, Gaby Mieloo, Hanneke Willemsen, Marjolein Perrotta, Concetta Simona Poddighe, Pino J Feenstra, Ilse Draaisma, Jos van Ravenswaaij-Arts, Conny M A Producer: 20101215 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. [electronic resource] by Kleefstra, Tjitske Yntema, Helger G Nillesen, Willy M Oudakker, Astrid R Mullaart, Reinier A Geerdink, Niels van Bokhoven, Hans de Vries, Bert B A Sistermans, Erik A Hamel, Ben C J Producer: 20040506 In: European journal of human genetics : EJHG vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A cytogenetic study in a large population of intellectually disabled Indonesians. [electronic resource] by Mundhofir, Farmaditya E P Winarni, Tri Indah van Bon, Bregje W Aminah, Siti Nillesen, Willy M Merkx, Gerard Smeets, Dominique Hamel, Ben C J Faradz, Sultana M H Yntema, Helger G Producer: 20121010 In: Genetic testing and molecular biomarkers vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. [electronic resource] by Kleefstra, Tjitske Koolen, David A Nillesen, Willy M de Leeuw, Nicole Hamel, Ben C J Veltman, Joris A Sistermans, Erik A van Bokhoven, Hans van Ravenswaay, Conny de Vries, Bert B A Producer: 20060530 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies. [electronic resource] by Willemsen, Marjolein H de Leeuw, Nicole de Brouwer, Arjan P M Pfundt, Rolph Hehir-Kwa, Jayne Y Yntema, Helger G Nillesen, Willy M de Vries, Bert B A van Bokhoven, Hans Kleefstra, Tjitske Producer: 20130218 In: European journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. [electronic resource] by Beunders, Gea de Munnik, Sonja A Van der Aa, Nathalie Ceulemans, Berten Voorhoeve, Els Groffen, Alexander J Nillesen, Willy M Meijers-Heijboer, Elizabeth J Frank Kooy, R Yntema, Helger G Sistermans, Erik A Producer: 20160203 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Novel genetic causes for cerebral visual impairment. [electronic resource] by Bosch, Daniëlle G M Boonstra, F Nienke de Leeuw, Nicole Pfundt, Rolph Nillesen, Willy M de Ligt, Joep Gilissen, Christian Jhangiani, Shalini Lupski, James R Cremers, Frans P M de Vries, Bert B A Producer: 20161226 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)
	12.	Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. [electronic resource] by Koolen, David A Pfundt, Rolph de Leeuw, Nicole Hehir-Kwa, Jayne Y Nillesen, Willy M Neefs, Ineke Scheltinga, Ine Sistermans, Erik Smeets, Dominique Brunner, Han G van Kessel, Ad Geurts Veltman, Joris A de Vries, Bert B A Producer: 20090528 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration. [electronic resource] by Duvvari, Maheswara R Saksens, Nicole T M van de Ven, Johannes P H de Jong-Hesse, Yvonne Schick, Tina Nillesen, Willy M Fauser, Sascha Hoefsloot, Lies H Hoyng, Carel B de Jong, Eiko K den Hollander, Anneke I Producer: 20150911 In: Molecular vision vol. 21 Availability: No items available. Save to lists Add to cart (remove)
	14.	Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study. [electronic resource] by Mundhofir, Farmaditya E P Nillesen, Willy M Van Bon, Bregje W M Smeets, Dominique Pfundt, Rolph van de Ven-Schobers, Gaby Ruiterkamp-Versteeg, Martina Winarni, Tri I Hamel, Ben C J Yntema, Helger G Faradz, Sultana M H Producer: 20130910 In: Indian journal of human genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. [electronic resource] by Nillesen, Willy M Yntema, Helger G Moscarda, Marco Verbeek, Nienke E Wilson, Louise C Cowan, Frances Schepens, Marga Raas-Rothschild, Annick Gafni-Weinstein, Orly Zollino, Marcella Vijzelaar, Raymon Neri, Giovanni Nelen, Marcel Bokhoven, Hans van Giltay, Jacques Kleefstra, Tjitske Producer: 20111014 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. [electronic resource] by Jongmans, Marjolijn C J Hoogerbrugge, Peter M Hilkens, Linda Flucke, Uta van der Burgt, Ineke Noordam, Kees Ruiterkamp-Versteeg, Martina Yntema, Helger G Nillesen, Willy M Ligtenberg, Marjolijn J L van Kessel, Ad Geurts Kuiper, Roland P Hoogerbrugge, Nicoline Producer: 20100909 In: Genes, chromosomes & cancer vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. [electronic resource] by Kleefstra, Tjitske Brunner, Han G Amiel, Jeanne Oudakker, Astrid R Nillesen, Willy M Magee, Alex Geneviève, David Cormier-Daire, Valérie van Esch, Hilde Fryns, Jean-Pierre Hamel, Ben C J Sistermans, Erik A de Vries, Bert B A van Bokhoven, Hans Producer: 20060914 In: American journal of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. [electronic resource] by Kleefstra, Tjitske Wortmann, Saskia B Rodenburg, Richard J T Bongers, Ernie M H F Hadzsiev, Kinga Noordam, Cees van den Heuvel, Lambert P Nillesen, Willy M Hollody, Katalin Gillessen-Kaesbach, Gabrielle Lammens, Martin Smeitink, Jan A M van der Burgt, Ineke Morava, Eva Producer: 20110504 In: European journal of human genetics : EJHG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. [electronic resource] by Koolen, David A Dupont, Juliette de Leeuw, Nicole Vissers, Lisenka E L M van den Heuvel, Simone P A Bradbury, Alyson Steer, James de Brouwer, Arjan P M Ten Kate, Leo P Nillesen, Willy M de Vries, Bert B A Parker, Michael J Producer: 20121012 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. [electronic resource] by Jongmans, Marjolijn C J van der Burgt, Ineke Hoogerbrugge, Peter M Noordam, Kees Yntema, Helger G Nillesen, Willy M Kuiper, Roland P Ligtenberg, Marjolijn J L van Kessel, Ad Geurts van Krieken, J Han J M Kiemeney, Lambertus A L M Hoogerbrugge, Nicoline Producer: 20110928 In: European journal of human genetics : EJHG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 30 results.