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	21.	SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. [electronic resource] by Schossig, Anna Bloch-Zupan, Agnès Lussi, Adrian Wolf, Nicole I Raskin, Salmo Cohen, Monika Giuliano, Fabienne Jurgens, Julie Krabichler, Birgit Koolen, David A de Macena Sobreira, Nara Lygia Maurer, Elisabeth Muller-Bolla, Michèle Penzien, Johann Zschocke, Johannes Kapferer-Seebacher, Ines Producer: 20171101 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. [electronic resource] by Koolen, David A Reardon, William Rosser, Elisabeth M Lacombe, Didier Hurst, Jane A Law, Caroline J Bongers, Ernie M H F van Ravenswaaij-Arts, Conny M Leisink, Martijn A R van Kessel, Ad Geurts Veltman, Joris A de Vries, Bert B A Producer: 20051027 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)
	23.	Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. [electronic resource] by Itsara, Andy Vissers, Lisenka E L M Steinberg, Karyn Meltz Meyer, Kevin J Zody, Michael C Koolen, David A de Ligt, Joep Cuppen, Edwin Baker, Carl Lee, Choli Graves, Tina A Wilson, Richard K Jenkins, Robert B Veltman, Joris A Eichler, Evan E Producer: 20120531 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Quantification of Phenotype Information Aids the Identification of Novel Disease Genes. [electronic resource] by Vulto-van Silfhout, Anneke T Gilissen, Christian Goeman, Jelle J Jansen, Sandra van Amen-Hellebrekers, Claudia J M van Bon, Bregje W M Koolen, David A Sistermans, Erik A Brunner, Han G de Brouwer, Arjan P M de Vries, Bert B A Producer: 20170629 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders. [electronic resource] by van der Donk, Roos Jansen, Sandra Schuurs-Hoeijmakers, Janneke H M Koolen, David A Goltstein, Lia C M J Hoischen, Alexander Brunner, Han G Kemmeren, Patrick Nellåker, Christoffer Vissers, Lisenka E L M de Vries, Bert B A Hehir-Kwa, Jayne Y Producer: 20200206 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	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)
	27.	Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. [electronic resource] by Koolen, David A Sistermans, Erik A Nilessen, Willy Knight, Samantha J L Regan, Regina Liu, Yan T Kooy, R Frank Rooms, Liesbeth Romano, Corrado Fichera, Marco Schinzel, Albert Baumer, Alessandra Anderlid, Britt-Marie Schoumans, Jacqueline van Kessel, Ad Geurts Nordenskjold, Magnus de Vries, Bert B A Producer: 20080604 In: European journal of human genetics : EJHG vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. [electronic resource] by Mulkey, Sarah B Ben-Zeev, Bruria Nicolai, Joost Carroll, John L Grønborg, Sabine Jiang, Yong-Hui Joshi, Nishtha Kelly, Megan Koolen, David A Mikati, Mohamad A Park, Kristen Pearl, Phillip L Scheffer, Ingrid E Spillmann, Rebecca C Taglialatela, Maurizio Vieker, Silvia Weckhuysen, Sarah Cooper, Edward C Cilio, Maria Roberta Producer: 20170621 In: Epilepsia vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition. [electronic resource] by Arbogast, Thomas Iacono, Giovanni Chevalier, Claire Afinowi, Nurudeen O Houbaert, Xander van Eede, Matthijs C Laliberte, Christine Birling, Marie-Christine Linda, Katrin Meziane, Hamid Selloum, Mohammed Sorg, Tania Nadif Kasri, Nael Koolen, David A Stunnenberg, Henk G Henkelman, R Mark Kopanitsa, Maksym Humeau, Yann De Vries, Bert B A Herault, Yann Producer: 20170822 In: PLoS genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Diagnostic exome sequencing in persons with severe intellectual disability. [electronic resource] by de Ligt, Joep Willemsen, Marjolein H van Bon, Bregje W M Kleefstra, Tjitske Yntema, Helger G Kroes, Thessa Vulto-van Silfhout, Anneke T Koolen, David A de Vries, Petra Gilissen, Christian del Rosario, Marisol Hoischen, Alexander Scheffer, Hans de Vries, Bert B A Brunner, Han G Veltman, Joris A Vissers, Lisenka E L M Producer: 20121127 In: The New England journal of medicine vol. 367 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Aminoacyl-tRNA synthetase deficiencies in search of common themes. [electronic resource] by Fuchs, Sabine A Schene, Imre F Kok, Gautam Jansen, Jurriaan M Nikkels, Peter G J van Gassen, Koen L I Terheggen-Lagro, Suzanne W J van der Crabben, Saskia N Hoeks, Sanne E Niers, Laetitia E M Wolf, Nicole I de Vries, Maaike C Koolen, David A Houwen, Roderick H J Mulder, Margot F van Hasselt, Peter M Producer: 20190703 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. [electronic resource] by Koolen, David A Vissers, Lisenka E L M Pfundt, Rolph de Leeuw, Nicole Knight, Samantha J L Regan, Regina Kooy, R Frank Reyniers, Edwin Romano, Corrado Fichera, Marco Schinzel, Albert Baumer, Alessandra Anderlid, Britt-Marie Schoumans, Jacqueline Knoers, Nine V van Kessel, Ad Geurts Sistermans, Erik A Veltman, Joris A Brunner, Han G de Vries, Bert B A Producer: 20061106 In: Nature genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Diagnostic genome profiling in mental retardation. [electronic resource] by de Vries, Bert B A Pfundt, Rolph Leisink, Martijn Koolen, David A Vissers, Lisenka E L M Janssen, Irene M Reijmersdal, Simon van Nillesen, Willy M Huys, Erik H L P G Leeuw, Nicole de Smeets, Dominique Sistermans, Erik A Feuth, Ton van Ravenswaaij-Arts, Conny M A van Kessel, Ad Geurts Schoenmakers, Eric F P M Brunner, Han G Veltman, Joris A Producer: 20051115 In: American journal of human genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. [electronic resource] by Willemsen, Marjolein H Nijhof, Bonnie Fenckova, Michaela Nillesen, Willy M Bongers, Ernie M H F Castells-Nobau, Anna Asztalos, Lenke Viragh, Erika van Bon, Bregje W M Tezel, Emre Veltman, Joris A Brunner, Han G de Vries, Bert B A de Ligt, Joep Yntema, Helger G van Bokhoven, Hans Isidor, Bertrand Le Caignec, Cédric Lorino, Elsa Asztalos, Zoltan Koolen, David A Vissers, Lisenka E L M Schenck, Annette Kleefstra, Tjitske Producer: 20140218 In: Journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. [electronic resource] by de Brouwer, Arjan P M Abou Jamra, Rami Körtel, Nadine Soyris, Clara Polla, Daniel L Safra, Modi Zisso, Avia Powell, Christopher A Rebelo-Guiomar, Pedro Dinges, Nadja Morin, Violeta Stock, Michael Hussain, Mureed Shahzad, Mohsin Riazuddin, Saima Ahmed, Zubair M Pfundt, Rolph Schwarz, Franziska de Boer, Lonneke Reis, André Grozeva, Detilina Raymond, F Lucy Riazuddin, Sheikh Koolen, David A Minczuk, Michal Roignant, Jean-Yves van Bokhoven, Hans Schwartz, Schraga Producer: 20190514 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. [electronic resource] by McMillan, Hugh J Telegrafi, Aida Singleton, Amanda Cho, Megan T Lelli, Daniel Lynn, Francis C Griffin, Julie Asamoah, Alexander Rinne, Tuula Erasmus, Corrie E Koolen, David A Haaxma, Charlotte A Keren, Boris Doummar, Diane Mignot, Cyril Thompson, Islay Velsher, Lea Dehghani, Mohammadreza Vahidi Mehrjardi, Mohammad Yahya Maroofian, Reza Tchan, Michel Simons, Cas Christodoulou, John Martín-Hernández, Elena Guillen Sacoto, Maria J Henderson, Lindsay B McLaughlin, Heather Molday, Laurie L Molday, Robert S Yoon, Grace Producer: 20190415 In: Orphanet journal of rare diseases vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. [electronic resource] by Flex, Elisabetta Niceta, Marcello Cecchetti, Serena Thiffault, Isabelle Au, Margaret G Capuano, Alessandro Piermarini, Emanuela Ivanova, Anna A Francis, Joshua W Chillemi, Giovanni Chandramouli, Balasubramanian Carpentieri, Giovanna Haaxma, Charlotte A Ciolfi, Andrea Pizzi, Simone Douglas, Ganka V Levine, Kara Sferra, Antonella Dentici, Maria Lisa Pfundt, Rolph R Le Pichon, Jean-Baptiste Farrow, Emily Baas, Frank Piemonte, Fiorella Dallapiccola, Bruno Graham, John M Saunders, Carol J Bertini, Enrico Kahn, Richard A Koolen, David A Tartaglia, Marco Producer: 20170524 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. [electronic resource] by Koolen, David A Kramer, Jamie M Neveling, Kornelia Nillesen, Willy M Moore-Barton, Heather L Elmslie, Frances V Toutain, Annick Amiel, Jeanne Malan, Valérie Tsai, Anne Chun-Hui Cheung, Sau Wai Gilissen, Christian Verwiel, Eugene T P Martens, Sarah Feuth, Ton Bongers, Ernie M H F de Vries, Petra Scheffer, Hans Vissers, Lisenka E L M de Brouwer, Arjan P M Brunner, Han G Veltman, Joris A Schenck, Annette Yntema, Helger G de Vries, Bert B A Producer: 20120803 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. [electronic resource] by van Bon, Bregje W M Koolen, David A Brueton, Louise McMullan, Dominic Lichtenbelt, Klaske D Adès, Lesley C Peters, Gregory Gibson, Kate Moloney, Susan Novara, Francesca Pramparo, Tiziano Dalla Bernardina, Bernardo Zoccante, Leonardo Balottin, Umberto Piazza, Fausta Pecile, Vanna Gasparini, Paolo Guerci, Veronica Kets, Marleen Pfundt, Rolph de Brouwer, Arjan P Veltman, Joris A de Leeuw, Nicole Wilson, Meredith Antony, Jayne Reitano, Santina Luciano, Daniela Fichera, Marco Romano, Corrado Brunner, Han G Zuffardi, Orsetta de Vries, Bert B A Producer: 20100224 In: European journal of human genetics : EJHG vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. [electronic resource] by Diets, Illja J Waanders, Esmé Ligtenberg, Marjolijn J van Bladel, Diede A G Kamping, Eveline J Hoogerbrugge, Peter M Hopman, Saskia Olderode-Berends, Maran J Gerkes, Erica H Koolen, David A Marcelis, Carlo Santen, Gijs W van Belzen, Martine J Mordaunt, Dylan McGregor, Lesley Thompson, Elizabeth Kattamis, Antonis Pastorczak, Agata Mlynarski, Wojciech Ilencikova, Denisa van Silfhout, Anneke Vulto- Gardeitchik, Thatjana de Bont, Eveline S Loeffen, Jan Wagner, Anja Mensenkamp, Arjen R Kuiper, Roland P Hoogerbrugge, Nicoline Jongmans, Marjolijn C Producer: 20190927 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 52 results.