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	1.	Additional phenotypic features of Muenke syndrome in 2 Dutch families. [electronic resource] by de Jong, Tim Mathijssen, Irene M J Hoogeboom, A Jeannette M Producer: 20110923 In: The Journal of craniofacial surgery vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Brachydactyly: a rare complication of sickle cell anaemia. [electronic resource] by Bosch, Daniëlle G M van Nieuwenhoven, Christianne A Hoogeboom, A Jeannette M Producer: 20110929 In: Clinical dysmorphology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Pfeiffer syndrome: the importance of prenatal diagnosis. [electronic resource] by Nieuwenhuyzen-De Boer, Gatske M Hoogeboom, A Jeannette M Smit, Liesbeth S Heydanus, Roger Eggink, Alex J Producer: 20150624 In: European journal of obstetrics, gynecology, and reproductive biology vol. 181 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Preaxial polydactyly of the foot. [electronic resource] by Burger, Elise B Baas, Martijn Hovius, Steven E R Hoogeboom, A Jeannette M van Nieuwenhoven, Christianne A Producer: 20180709 In: Acta orthopaedica vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A patient with chromosome 18p deletion and congenital hypoglossia. [electronic resource] by Klaphake, Sanne van Dooren, Marieke F Senden, Richelle E M Hoogeboom, A Jeannette M Wolvius, Eppo B Koudstaal, Maarten J Producer: 20180903 In: Clinical dysmorphology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p. [electronic resource] by Oegema, Renske van Zutven, Laura J C M van Hassel, Daniella A C M Huijbregts, Guido C M Hoogeboom, A Jeannette M Producer: 20120822 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)
	7.	Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations? [electronic resource] by Baas, Martijn Potuijt, Jacob W P Hovius, Steven E R Hoogeboom, A Jeannette M Galjaard, Robert-Jan H van Nieuwenhoven, Christianne A Producer: 20180605 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Periventricular nodular heterotopia and distal limb deficiency: a recurrent association. [electronic resource] by de Wit, Marie Claire Y de Coo, Irenaeus F M Schot, Rachel Hoogeboom, A Jeannette M Lequin, Maarten H Verkerk, Annemieke J M H Mancini, Grazia M S Producer: 20100708 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)
	9.	Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. [electronic resource] by Nellen, Ruud G L Nagtzaam, Ivo F Hoogeboom, A Jeannette M Bladergroen, Reno S Jonkman, Marcel F Steijlen, Peter M van Steensel, Maurice A M van Geel, Michel Producer: 20161027 In: Experimental dermatology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. [electronic resource] by van der Veken, Lars T Dieleman, Marianne Mj Douben, Hannie van de Brug, Judith C van de Graaf, Raoul Hoogeboom, A Jeannette M Poddighe, Pino J de Klein, Annelies Producer: 20110714 In: Molecular cytogenetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly. [electronic resource] by Lodder, Elisabeth M Eussen, Bert H van Hassel, Daniëlla A C M Hoogeboom, A Jeannette M Poddighe, Pino J Coert, J Henk Oostra, Ben A de Klein, Annelies de Graaff, Esther Producer: 20091224 In: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Boston type craniosynostosis: report of a second mutation in MSX2. [electronic resource] by Florisson, Joyce M G Verkerk, Annemieke J M H Huigh, Daphne Hoogeboom, A Jeannette M Swagemakers, Sigrid Kremer, Andreas Heijsman, Daphne Lequin, Maarten H Mathijssen, Irene M J van der Spek, Peter J Producer: 20140515 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. [electronic resource] by Fenwick, Aimee L Goos, Jacqueline A C Rankin, Julia Lord, Helen Lester, Tracy Hoogeboom, A Jeannette M van den Ouweland, Ans M W Wall, Steven A Mathijssen, Irene M J Wilkie, Andrew O M Producer: 20141104 In: BMC medical genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. [electronic resource] by Kalscheuer, Vera M James, Victoria M Himelright, Miranda L Long, Philip Oegema, Renske Jensen, Corinna Bienek, Melanie Hu, Hao Haas, Stefan A Topf, Maya Hoogeboom, A Jeannette M Harvey, Kirsten Walikonis, Randall Harvey, Robert J Producer: 20160121 In: Frontiers in molecular neuroscience vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A novel mutation in FGFR2. [electronic resource] by Goos, Jacqueline A C van den Ouweland, Ans M W Swagemakers, Sigrid M A Verkerk, Annemieke J M H Hoogeboom, A Jeannette M van Veelen, Marie-Lise C Mathijssen, Irene M J van der Spek, Peter J Producer: 20150818 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. [electronic resource] by Hagen, Jacob te Brinke, Heleen Wanders, Ronald J A Knegt, Alida C Oussoren, Esmee Hoogeboom, A Jeannette M Ruijter, George J G Becker, Daniel Schwab, Karl Otfried Franke, Ingo Duran, Marinus Waterham, Hans R Sass, Jörn Oliver Houten, Sander M Producer: 20160706 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)
	17.	PREPL deficiency: delineation of the phenotype and development of a functional blood assay. [electronic resource] by Régal, Luc Mårtensson, Emma Maystadt, Isabelle Voermans, Nicol Lederer, Damien Burlina, Alberto Juan Fita, María Jesús Hoogeboom, A Jeannette M Olsson Engman, Mia Hollemans, Tess Schouten, Meyke Meulemans, Sandra Jonson, Tord François, Inge Gil Ortega, David Kamsteeg, Erik-Jan Creemers, John W M Producer: 20181002 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. [electronic resource] by Vergult, Sarah Hoogeboom, A Jeannette M Bijlsma, Emilia K Sante, Tom Klopocki, Eva De Wilde, Bram Jongmans, Marjolijn Thiel, Christian Verheij, Joke B G M Perez-Aytes, Antonio Van Esch, Hilde Kuechler, Alma Barge-Schaapveld, Daniela Q C M Sznajer, Yves Mortier, Geert Menten, Björn Producer: 20130816 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	A de novo GLI3 mutation in a patient with acrocallosal syndrome. [electronic resource] by Speksnijder, Leonie Cohen-Overbeek, Titia E Knapen, Maarten F C M Lunshof, Simone M Hoogeboom, A Jeannette M van den Ouwenland, Ans M de Coo, Irenaneus F M Lequin, Maarten H Bolz, Hanno J Bergmann, Carsten Biesecker, Leslie G Willems, Patrick J Wessels, Marja W Producer: 20160415 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. [electronic resource] by Twigg, Stephen R F Versnel, Sarah L Nürnberg, Gudrun Lees, Melissa M Bhat, Meenakshi Hammond, Peter Hennekam, Raoul C M Hoogeboom, A Jeannette M Hurst, Jane A Johnson, David Robinson, Alexis A Scambler, Peter J Gerrelli, Dianne Nürnberg, Peter Mathijssen, Irene M J Wilkie, Andrew O M Producer: 20090609 In: American journal of human genetics vol. 84 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 31 results.