Your search returned 29 results.

Results
	1.	A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). [electronic resource] by Ockeloen, Charlotte W Cobben, Jan M Marcelis, Carlo L M Koolen, David A Producer: 20140108 In: Clinical dysmorphology vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome. [electronic resource] by Maley, Alexander M Spraker, Mary K de Vries, Bert B A Koolen, David A Producer: 20150519 In: Clinical dysmorphology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Whole exome sequencing of suspected mitochondrial patients in clinical practice. [electronic resource] by Wortmann, Saskia B Koolen, David A Smeitink, Jan A van den Heuvel, Lambert Rodenburg, Richard J Producer: 20160325 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	[Multiple endocrine neoplasia type 2B]. [electronic resource] by Pijnenburg-Kleizen, Karijn J van Santen, Hanneke M Koolen, David A Claahsen-van der Grinten, Hedi L Producer: 20151222 In: Nederlands tijdschrift voor geneeskunde vol. 159 Availability: No items available. Save to lists Add to cart (remove)
	5.	Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. [electronic resource] by Koolen, David A Veltman, Joris A Renier, Willy O Droog, Richard P van Kessel, Ad Geurts de Vries, Bert B A Producer: 20050411 In: American journal of medical genetics. Part A vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review. [electronic resource] by van Bon, Bregje W M Koolen, David A Pfundt, Rolph van der Burgt, Ineke de Leeuw, Nicole de Vries, Bert B A Producer: 20080522 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review. [electronic resource] by van Bon, Bregje W M Koolen, David A Feenstra, Ilse Neefs, Ineke Pfundt, Rolph Smeets, Dominique F de Vries, Bert B A Producer: 20071101 In: Clinical dysmorphology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction. [electronic resource] by Borel, Christelle Cheung, Fanny Stewart, Helen Koolen, David A Phillips, Christopher Thomas, N Simon Jacobs, Patricia A Eliez, Stephan Sharp, Andrew J Producer: 20121015 In: Human genetics vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation. [electronic resource] by Ruiter, Mariken Koolen, David A Pfundt, Rolph de Leeuw, Nicole Klinkers, Harry M J Sistermans, Erik A Veltman, Joris A de Vries, Bert B A Producer: 20060905 In: Clinical dysmorphology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. [electronic resource] by Verhoeven, Willem M A Egger, Jos I M Koolen, David A Yntema, Helger Olgiati, Simone Breedveld, Guido J Bonifati, Vincenzo van de Warrenburg, Bart P C Producer: 20141124 In: Parkinsonism & related disorders vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	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)
	12.	Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. [electronic resource] by Koolen, David A Herbergs, Jos Veltman, Joris A Pfundt, Rolph van Bokhoven, Hans Stroink, Hans Sistermans, Erik A Brunner, Han G Geurts van Kessel, Ad de Vries, Bert B A Producer: 20061006 In: Journal of human genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Variability in dentofacial phenotypes in four families with WNT10A mutations. [electronic resource] by Vink, Christian P Ockeloen, Charlotte W ten Kate, Sietske Koolen, David A Ploos van Amstel, Johannes Kristian Kuijpers-Jagtman, Anne-Marie van Heumen, Celeste C Kleefstra, Tjitske Carels, Carine E L Producer: 20150413 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	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)
	15.	A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. [electronic resource] by Vermeer, Sascha Koolen, David A Visser, Gepke Brackel, Hein J L van der Burgt, Ineke de Leeuw, Nicole Willemsen, Michèl A A P Sistermans, Erik A Pfundt, Rolph de Vries, Bert B A Producer: 20070524 In: Developmental medicine and child neurology vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	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)
	17.	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)
	18.	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)
	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.	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)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 29 results.