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	1.	Hereditary congenital unilateral deafness: a new disorder? [electronic resource] by Dikkers, Frederik G Verheij, Joke B G M van Mechelen, Monique Producer: 20050609 In: The Annals of otology, rhinology, and laryngology vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. [electronic resource] by Verheij, Joke B G M Kunze, Jürgen Osinga, Jan van Essen, Anthonie J Hofstra, Robert M W Producer: 20020403 In: American journal of medical genetics vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation. [electronic resource] by van der Werf, Christine S Halim, Danny Verheij, Joke B G M Alves, Maria M Hofstra, Robert M W Publication details: Biochimica et biophysica acta Nov 2015 In: Biochimica et biophysica acta vol. 1852 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mutations in SCG10 are not involved in Hirschsprung disease. [electronic resource] by Alves, Maria M M Osinga, Jan Verheij, Joke B G M Metzger, Marco Eggen, Bart J L Hofstra, Robert M W Producer: 20110705 In: PloS one vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds. [electronic resource] by Wasmann, Rosemarie A Wassink-Ruiter, Jolien S Klein Sundin, Olof H Morales, Elisa Verheij, Joke B G M Pott, Jan Willem R Producer: 20141218 In: Acta ophthalmologica vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Clomiphene and hypospadias on a detailed level: signal or chance? [electronic resource] by Meijer, Willemijn M de Jong-Van den Berg, Lolkje T W van den Berg, Marjan D Verheij, Joke B G M de Walle, Hermien E K Producer: 20060616 In: Birth defects research. Part A, Clinical and molecular teratology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. [electronic resource] by van der Hout, Annemarie H Oudesluijs, Grétel G Venema, Andrea Verheij, Joke B G M Mol, Bart G J Rump, Patrick Brunner, Han G Vos, Yvonne J van Essen, Anthonie J Producer: 20080805 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)
	8.	Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. [electronic resource] by van Silfhout, Anneke T van den Akker, Peter C Dijkhuizen, Trijnie Verheij, Joke B G M Olderode-Berends, Maran J W Kok, Klaas Sikkema-Raddatz, Birgit van Ravenswaaij-Arts, Conny M A Producer: 20100112 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations. [electronic resource] by van der Werf, Christine S Sribudiani, Yunia Verheij, Joke B G M Carroll, Matthew O'Loughlin, Edward Chen, Chien-Huan Brooks, Alice S Liszewski, M Kathryn Atkinson, John P Hofstra, Robert M W Producer: 20131211 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)
	10.	FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. [electronic resource] by Dijkhuizen, Trijnie van Essen, Ton van der Vlies, Pieter Verheij, Joke B G M Sikkema-Raddatz, Birgit van der Veen, Anneke Y Gerssen-Schoorl, Klasien B J Buys, Charles H C M Kok, Klaas Producer: 20070112 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)
	11.	Identifying candidate Hirschsprung disease-associated RET variants. [electronic resource] by Burzynski, Grzegorz M Nolte, Ilja M Bronda, Agnes Bos, Krista K Osinga, Jan Plaza Menacho, Ivan Twigt, Bas Maas, Saskia Brooks, Alice S Verheij, Joke B G M Buys, Charles H C M Hofstra, Robert M W Producer: 20050616 In: American journal of human genetics vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. [electronic resource] by Jongmans, Marjolijn C J Hoefsloot, Lies H van der Donk, Kim P Admiraal, Ronald J Magee, Alex van de Laar, Ingrid Hendriks, Yvonne Verheij, Joke B G M Walpole, Ian Brunner, Han G van Ravenswaaij, Conny M A Producer: 20080108 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)
	13.	Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease. [electronic resource] by Jannot, Anne-Sophie Amiel, Jeanne Pelet, Anna Lantieri, Francesca Fernandez, Raquel M Verheij, Joke B G M Garcia-Barcelo, Merce Arnold, Stacey Ceccherini, Isabella Borrego, Salud Hofstra, Robert M W Tam, Paul K H Munnich, Arnold Chakravarti, Aravinda Clerget-Darpoux, Françoise Lyonnet, Stanislas Producer: 20121226 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)
	14.	The clinical spectrum of complete FBN1 allele deletions. [electronic resource] by Hilhorst-Hofstee, Yvonne Hamel, Ben C J Verheij, Joke B G M Rijlaarsdam, Marry E B Mancini, Grazia M S Cobben, Jan M Giroth, Cindy Ruivenkamp, Claudia A L Hansson, Kerstin B M Timmermans, Janneke Moll, Henriette A Breuning, Martijn H Pals, Gerard Producer: 20110531 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)
	15.	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)
	16.	Mutations in two regions of FLNB result in atelosteogenesis I and III. [electronic resource] by Farrington-Rock, Claire Firestein, Marc H Bicknell, Louise S Superti-Furga, Andrea Bacino, Carlos A Cormier-Daire, Valerie Le Merrer, Martine Baumann, Clarisse Roume, Joelle Rump, Patrick Verheij, Joke B G M Sweeney, Elizabeth Rimoin, David L Lachman, Ralph S Robertson, Stephen P Cohn, Daniel H Krakow, Deborah Producer: 20060807 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. [electronic resource] by Littink, Karin W Pott, Jan-Willem R Collin, Rob W J Kroes, Hester Y Verheij, Joke B G M Blokland, Ellen A W de Castro Miró, Marta Hoyng, Carel B Klaver, Caroline C W Koenekoop, Robert K Rohrschneider, Klaus Cremers, Frans P M van den Born, L Ingeborgh den Hollander, Anneke I Producer: 20100802 In: Investigative ophthalmology & visual science vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. [electronic resource] by Seco, Celia Zazo Giese, Arnaud P Shafique, Sobia Schraders, Margit Oonk, Anne M M Grossheim, Mike Oostrik, Jaap Strom, Tim Hegde, Rashmi van Wijk, Erwin Frolenkov, Gregory I Azam, Maleeha Yntema, Helger G Free, Rolien H Riazuddin, Saima Verheij, Joke B G M Admiraal, Ronald J Qamar, Raheel Ahmed, Zubair M Kremer, Hannie Producer: 20161213 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)
	19.	Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. [electronic resource] by Alders, Marielle Hogan, Benjamin M Gjini, Evisa Salehi, Faranak Al-Gazali, Lihadh Hennekam, Eric A Holmberg, Eva E Mannens, Marcel M A M Mulder, Margot F Offerhaus, G Johan A Prescott, Trine E Schroor, Eelco J Verheij, Joke B G M Witte, Merlijn Zwijnenburg, Petra J Vikkula, Mikka Schulte-Merker, Stefan Hennekam, Raoul C Producer: 20100105 In: Nature genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. [electronic resource] by Buena-Atienza, Elena Rüther, Klaus Baumann, Britta Bergholz, Richard Birch, David De Baere, Elfride Dollfus, Helene Greally, Marie T Gustavsson, Peter Hamel, Christian P Heckenlively, John R Leroy, Bart P Plomp, Astrid S Pott, Jan Willem R Rose, Katherine Rosenberg, Thomas Stark, Zornitza Verheij, Joke B G M Weleber, Richard Zobor, Ditta Weisschuh, Nicole Kohl, Susanne Wissinger, Bernd Producer: 20180424 In: Scientific reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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