Your search returned 19 results.

Results
	1.	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)
	2.	Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. [electronic resource] by Bosch, Daniëlle G M Boonstra, Frouke N Pfundt, Rolph Cremers, Frans P M de Vries, Bert B A Producer: 20150721 In: Clinical dysmorphology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brain. [electronic resource] by van de Lagemaat, Louie N Nijhof, Bonnie Bosch, Daniëlle G M Kohansal-Nodehi, Mahdokht Keerthikumar, Shivakumar Heimel, J Alexander Producer: 20141224 In: Frontiers in neuroscience vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. [electronic resource] by Bosch, Daniëlle G M Boonstra, F Nienke Willemsen, Michèl A A P Cremers, Frans P M de Vries, Bert B A Producer: 20150128 In: BMC ophthalmology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Chromosomal aberrations in cerebral visual impairment. [electronic resource] by Bosch, Daniëlle G M Boonstra, F Nienke Reijnders, Margot R F Pfundt, Rolph Cremers, Frans P M de Vries, Bert B A Producer: 20150710 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. [electronic resource] by Liu, Yangfan P Bosch, Daniëlle G M Siemiatkowska, Anna M Rendtorff, Nanna Dahl Boonstra, F Nienke Möller, Claes Tranebjærg, Lisbeth Katsanis, Nicholas Cremers, Frans P M Producer: 20171113 In: Ophthalmic genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Cerebral visual impairment and intellectual disability caused by PGAP1 variants. [electronic resource] by Bosch, Daniëlle G M Boonstra, F Nienke Kinoshita, Taroh Jhangiani, Shalini de Ligt, Joep Cremers, Frans P M Lupski, James R Murakami, Yoshiko de Vries, Bert B A Producer: 20160824 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)
	8.	An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. [electronic resource] by Tracewska-Siemiątkowska, Anna Haer-Wigman, Lonneke Bosch, Danielle G M Nickerson, Deborah Bamshad, Michael J van de Vorst, Maartje Rendtorff, Nanna Dahl Möller, Claes Kjellström, Ulrika Andréasson, Sten Cremers, Frans P M Tranebjærg, Lisbeth Publication details: Genes Dec 2017 In: Genes vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	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)
	10.	Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. [electronic resource] by Siemiatkowska, Anna M Schuurs-Hoeijmakers, Janneke H M Bosch, Danielle G M Boonstra, F Nienke Riemslag, Frans C C Ruiter, Mariken de Vries, Bert B A den Hollander, Anneke I Collin, Rob W J Cremers, Frans P M Producer: 20141024 In: JAMA ophthalmology vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. [electronic resource] by Rech, Megan E McCarthy, John M Chen, Chun-An Edmond, Jane C Shah, Veeral S Bosch, Daniëlle G M Berry, Gerard T Williams, Linford Madan-Khetarpal, Suneeta Niyazov, Dmitriy Shaw-Smith, Charles Kovar, Erin M Lupo, Philip J Schaaf, Christian P Producer: 20210128 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. [electronic resource] by Ba, Wei Yan, Yan Reijnders, Margot R F Schuurs-Hoeijmakers, Janneke H M Feenstra, Ilse Bongers, Ernie M H F Bosch, Daniëlle G M De Leeuw, Nicole Pfundt, Rolph Gilissen, Christian De Vries, Petra F Veltman, Joris A Hoischen, Alexander Mefford, Heather C Eichler, Evan E Vissers, Lisenka E L M Nadif Kasri, Nael De Vries, Bert B A Producer: 20161213 In: Human molecular genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	NR2F1 mutations cause optic atrophy with intellectual disability. [electronic resource] by Bosch, Daniëlle G M Boonstra, F Nienke Gonzaga-Jauregui, Claudia Xu, Mafei de Ligt, Joep Jhangiani, Shalini Wiszniewski, Wojciech Muzny, Donna M Yntema, Helger G Pfundt, Rolph Vissers, Lisenka E L M Spruijt, Liesbeth Blokland, Ellen A W Chen, Chun-An Lewis, Richard A Tsai, Sophia Y Gibbs, Richard A Tsai, Ming-Jer Lupski, James R Zoghbi, Huda Y Cremers, Frans P M de Vries, Bert B A Schaaf, Christian P Producer: 20140331 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. [electronic resource] by Fregeau, Brieana Kim, Bum Jun Hernández-García, Andrés Jordan, Valerie K Cho, Megan T Schnur, Rhonda E Monaghan, Kristin G Juusola, Jane Rosenfeld, Jill A Bhoj, Elizabeth Zackai, Elaine H Sacharow, Stephanie Barañano, Kristin Bosch, Daniëlle G M de Vries, Bert B A Lindstrom, Kristin Schroeder, Audrey James, Philip Kulch, Peggy Lalani, Seema R van Haelst, Mieke M van Gassen, Koen L I van Binsbergen, Ellen Barkovich, A James Scott, Daryl A Sherr, Elliott H Producer: 20170515 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. [electronic resource] by Chen, Chun-An Bosch, Daniëlle G M Cho, Megan T Rosenfeld, Jill A Shinawi, Marwan Lewis, Richard Alan Mann, John Jayakar, Parul Payne, Katelyn Walsh, Laurence Moss, Timothy Schreiber, Allison Schoonveld, Cheri Monaghan, Kristin G Elmslie, Frances Douglas, Ganka Boonstra, F Nienke Millan, Francisca Cremers, Frans P M McKnight, Dianalee Richard, Gabriele Juusola, Jane Kendall, Fran Ramsey, Keri Anyane-Yeboa, Kwame Malkin, Elfrida Chung, Wendy K Niyazov, Dmitriy Pascual, Juan M Walkiewicz, Magdalena Veluchamy, Vivekanand Li, Chumei Hisama, Fuki M de Vries, Bert B A Schaaf, Christian Producer: 20170915 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. [electronic resource] by Chen, Chun-An Bosch, Daniëlle G M Cho ScM, Megan T Rosenfeld, Jill A Shinawi, Marwan Lewis, Richard Alan Mann, John Jayakar, Parul Payne, Katelyn Walsh, Laurence Moss, Timothy Schreiber, Allison Schoonveld, Cheri Monaghan, Kristin G Elmslie, Frances Douglas, Ganka Boonstra, F Nienke Millan, Francisca Cremers, Frans P M McKnight, Dianalee Richard, Gabriele Juusola, Jane Kendall, Fran Ramsey, Keri Anyane-Yeboa, Kwame Malkin, Elfrida Chung, Wendy K Niyazov, Dmitriy Pascual, Juan M Walkiewicz, Magdalena Veluchamy, Vivekanand Li, Chumei Hisama, Fuki M de Vries, Bert B A Schaaf, Christian Publication details: Genetics in medicine : official journal of the American College of Medical Genetics 08 2017 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. [electronic resource] by Lugtenberg, Dorien Reijnders, Margot R F Fenckova, Michaela Bijlsma, Emilia K Bernier, Raphael van Bon, Bregje W M Smeets, Eric Vulto-van Silfhout, Anneke T Bosch, Danielle Eichler, Evan E Mefford, Heather C Carvill, Gemma L Bongers, Ernie M H F Schuurs-Hoeijmakers, Janneke Hm Ruivenkamp, Claudia A Santen, Gijs W E van den Maagdenberg, Arn M J M Peeters-Scholte, Cacha M P C D Kuenen, Sabine Verstreken, Patrik Pfundt, Rolph Yntema, Helger G de Vries, Petra F Veltman, Joris A Hoischen, Alexander Gilissen, Christian de Vries, Bert B A Schenck, Annette Kleefstra, Tjitske Vissers, Lisenka E L M Producer: 20170724 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)
	18.	A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. [electronic resource] by Jansen, Sandra Hoischen, Alexander Coe, Bradley P Carvill, Gemma L Van Esch, Hilde Bosch, Daniëlle G M Andersen, Ulla A Baker, Carl Bauters, Marijke Bernier, Raphael A van Bon, Bregje W Claahsen-van der Grinten, Hedi L Gecz, Jozef Gilissen, Christian Grillo, Lucia Hackett, Anna Kleefstra, Tjitske Koolen, David Kvarnung, Malin Larsen, Martin J Marcelis, Carlo McKenzie, Fiona Monin, Marie-Lorraine Nava, Caroline Schuurs-Hoeijmakers, Janneke H Pfundt, Rolph Steehouwer, Marloes Stevens, Servi J C Stumpel, Connie T Vansenne, Fleur Vinci, Mirella van de Vorst, Maartje Vries, Petra de Witherspoon, Kali Veltman, Joris A Brunner, Han G Mefford, Heather C Romano, Corrado Vissers, Lisenka E L M Eichler, Evan E de Vries, Bert B A Producer: 20181211 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. [electronic resource] by Kim, Jung-Hyun Shinde, Deepali N Reijnders, Margot R F Hauser, Natalie S Belmonte, Rebecca L Wilson, Gregory R Bosch, Daniëlle G M Bubulya, Paula A Shashi, Vandana Petrovski, Slavé Stone, Joshua K Park, Eun Young Veltman, Joris A Sinnema, Margje Stumpel, Connie T R M Draaisma, Jos M Nicolai, Joost Yntema, Helger G Lindstrom, Kristin de Vries, Bert B A Jewett, Tamison Santoro, Stephanie L Vogt, Julie Bachman, Kristine K Seeley, Andrea H Krokosky, Alyson Turner, Clesson Rohena, Luis Hempel, Maja Kortüm, Fanny Lessel, Davor Neu, Axel Strom, Tim M Wieczorek, Dagmar Bramswig, Nuria Laccone, Franco A Behunova, Jana Rehder, Helga Gordon, Christopher T Rio, Marlène Romana, Serge Tang, Sha El-Khechen, Dima Cho, Megan T McWalter, Kirsty Douglas, Ganka Baskin, Berivan Begtrup, Amber Funari, Tara Schoch, Kelly Stegmann, Alexander P A Stevens, Servi J C Zhang, Dong-Er Traver, David Yao, Xu MacArthur, Daniel G Brunner, Han G Mancini, Grazia M Myers, Richard M Owen, Laurie B Lim, Ssang-Taek Stachura, David L Vissers, Lisenka E L M Ahn, Eun-Young Erin Producer: 20170502 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)