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	101.	PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. [electronic resource] by Corral-Serrano, Julio C Lamers, Ideke J C van Reeuwijk, Jeroen Duijkers, Lonneke Hoogendoorn, Anita D M Yildirim, Adem Argyrou, Nikoleta Ruigrok, Renate A A Letteboer, Stef J F Butcher, Rossano van Essen, Max D Sakami, Sanae van Beersum, Sylvia E C Palczewski, Krzysztof Cheetham, Michael E Liu, Qin Boldt, Karsten Wolfrum, Uwe Ueffing, Marius Garanto, Alejandro Roepman, Ronald Collin, Rob W J Producer: 20200728 In: Proceedings of the National Academy of Sciences of the United States of America vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. [electronic resource] by Thiadens, Alberta A H J den Hollander, Anneke I Roosing, Susanne Nabuurs, Sander B Zekveld-Vroon, Renate C Collin, Rob W J De Baere, Elfride Koenekoop, Robert K van Schooneveld, Mary J Strom, Tim M van Lith-Verhoeven, Janneke J C Lotery, Andrew J van Moll-Ramirez, Norka Leroy, Bart P van den Born, L Ingeborgh Hoyng, Carel B Cremers, Frans P M Klaver, Caroline C W Producer: 20090923 In: American journal of human genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. [electronic resource] by Estrada-Cuzcano, Alejandro Neveling, Kornelia Kohl, Susanne Banin, Eyal Rotenstreich, Ygal Sharon, Dror Falik-Zaccai, Tzipora C Hipp, Stephanie Roepman, Ronald Wissinger, Bernd Letteboer, Stef J F Mans, Dorus A Blokland, Ellen A W Kwint, Michael P Gijsen, Sabine J van Huet, Ramon A C Collin, Rob W J Scheffer, H Veltman, Joris A Zrenner, Eberhart den Hollander, Anneke I Klevering, B Jeroen Cremers, Frans P M Producer: 20120312 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)
	104.	ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. [electronic resource] by Collin, Rob W J Nikopoulos, Konstantinos Dona, Margo Gilissen, Christian Hoischen, Alexander Boonstra, F Nienke Poulter, James A Kondo, Hiroyuki Berger, Wolfgang Toomes, Carmel Tahira, Tomoko Mohn, Lucas R Blokland, Ellen A Hetterschijt, Lisette Ali, Manir Groothuismink, Johanne M Duijkers, Lonneke Inglehearn, Chris F Sollfrank, Lea Strom, Tim M Uchio, Eiichi van Nouhuys, C Erik Kremer, Hannie Veltman, Joris A van Wijk, Erwin Cremers, Frans P M Producer: 20130823 In: Proceedings of the National Academy of Sciences of the United States of America vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. [electronic resource] by Ahmed, Zubair M Masmoudi, Saber Kalay, Ersan Belyantseva, Inna A Mosrati, Mohamed Ali Collin, Rob W J Riazuddin, Saima Hmani-Aifa, Mounira Venselaar, Hanka Kawar, Mayya N Tlili, Abdelaziz van der Zwaag, Bert Khan, Shahid Y Ayadi, Leila Riazuddin, S Amer Morell, Robert J Griffith, Andrew J Charfedine, Ilhem Caylan, Refik Oostrik, Jaap Karaguzel, Ahmet Ghorbel, Abdelmonem Riazuddin, Sheikh Friedman, Thomas B Ayadi, Hammadi Kremer, Hannie Producer: 20081124 In: Nature genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. [electronic resource] by Kalay, Ersan Li, Yun Uzumcu, Abdullah Uyguner, Oya Collin, Rob W Caylan, Refik Ulubil-Emiroglu, Melike Kersten, Ferry F J Hafiz, Gunter van Wijk, Erwin Kayserili, Hulya Rohmann, Edyta Wagenstaller, Janine Hoefsloot, Lies H Strom, Tim M Nürnberg, Gudrun Baserer, Nermin den Hollander, Anneke I Cremers, Frans P M Cremers, Cor W R J Becker, Christian Brunner, Han G Nürnberg, Peter Karaguzel, Ahmet Basaran, Seher Kubisch, Christian Kremer, Hannie Wollnik, Bernd 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)
	107.	Next-generation genetic testing for retinitis pigmentosa. [electronic resource] by Neveling, Kornelia Collin, Rob W J Gilissen, Christian van Huet, Ramon A C Visser, Linda Kwint, Michael P Gijsen, Sabine J Zonneveld, Marijke N Wieskamp, Nienke de Ligt, Joep Siemiatkowska, Anna M Hoefsloot, Lies H Buckley, Michael F Kellner, Ulrich Branham, Kari E den Hollander, Anneke I Hoischen, Alexander Hoyng, Carel Klevering, B Jeroen van den Born, L Ingeborgh Veltman, Joris A Cremers, Frans P M Scheffer, Hans Producer: 20120906 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. [electronic resource] by Collin, Rob W J van den Born, L Ingeborgh Klevering, B Jeroen de Castro-Miró, Marta Littink, Karin W Arimadyo, Kentar Azam, Maleeha Yazar, Volkan Zonneveld, Marijke N Paun, Codrut C Siemiatkowska, Anna M Strom, Tim M Hehir-Kwa, Jayne Y Kroes, Hester Y de Faber, Jan-Tjeerd H N van Schooneveld, Mary J Heckenlively, John R Hoyng, Carel B den Hollander, Anneke I Cremers, Frans P M Producer: 20110610 In: Investigative ophthalmology & visual science vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. [electronic resource] by Nishiguchi, Koji M Avila-Fernandez, Almudena van Huet, Ramon A C Corton, Marta Pérez-Carro, Raquel Martín-Garrido, Esther López-Molina, María Isabel Blanco-Kelly, Fiona Hoefsloot, Lies H van Zelst-Stams, Wendy A García-Ruiz, Pedro J Del Val, Javier Di Gioia, Silvio Alessandro Klevering, B Jeroen van de Warrenburg, Bart P C Vazquez, Carlos Cremers, Frans P M García-Sandoval, Blanca Hoyng, Carel B Collin, Rob W J Rivolta, Carlo Ayuso, Carmen Producer: 20141204 In: Ophthalmology vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. [electronic resource] by Collin, Rob W J Kalay, Ersan Tariq, Muhammad Peters, Theo van der Zwaag, Bert Venselaar, Hanka Oostrik, Jaap Lee, Kwanghyuk Ahmed, Zubair M Caylan, Refik Li, Yun Spierenburg, Henk A Eyupoglu, Erol Heister, Angelien Riazuddin, Saima Bahat, Elif Ansar, Muhammad Arslan, Selcuk Wollnik, Bernd Brunner, Han G Cremers, Cor W R J Karaguzel, Ahmet Ahmad, Wasim Cremers, Frans P M Vriend, Gert Friedman, Thomas B Riazuddin, Sheikh Leal, Suzanne M Kremer, Hannie Producer: 20080130 In: American journal of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. [electronic resource] by Bauwens, Miriam Garanto, Alejandro Sangermano, Riccardo Naessens, Sarah Weisschuh, Nicole De Zaeytijd, Julie Khan, Mubeen Sadler, Françoise Balikova, Irina Van Cauwenbergh, Caroline Rosseel, Toon Bauwens, Jim De Leeneer, Kim De Jaegere, Sarah Van Laethem, Thalia De Vries, Meindert Carss, Keren Arno, Gavin Fakin, Ana Webster, Andrew R de Ravel de l'Argentière, Thomy J L Sznajer, Yves Vuylsteke, Marnik Kohl, Susanne Wissinger, Bernd Cherry, Timothy Collin, Rob W J Cremers, Frans P M Leroy, Bart P De Baere, Elfride 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)
	112.	BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. [electronic resource] by Estrada-Cuzcano, Alejandro Koenekoop, Robert K Senechal, Audrey De Baere, Elfride B W de Ravel, Thomy Banfi, Sandro Kohl, Susanne Ayuso, Carmen Sharon, Dror Hoyng, Carel B Hamel, Christian P Leroy, Bart P Ziviello, Carmela Lopez, Irma Bazinet, Alexandre Wissinger, Bernd Sliesoraityte, Ieva Avila-Fernandez, Almudena Littink, Karin W Vingolo, Enzo M Signorini, Sabrina Banin, Eyal Mizrahi-Meissonnier, Liliana Zrenner, Eberhard Kellner, Ulrich Collin, Rob W J den Hollander, Anneke I Cremers, Frans P M Klevering, B Jeroen Producer: 20130207 In: Archives of ophthalmology (Chicago, Ill. : 1960) vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. [electronic resource] by Sangermano, Riccardo Garanto, Alejandro Khan, Mubeen Runhart, Esmee H Bauwens, Miriam Bax, Nathalie M van den Born, L Ingeborgh Khan, Muhammad Imran Cornelis, Stéphanie S Verheij, Joke B G M Pott, Jan-Willem R Thiadens, Alberta A H J Klaver, Caroline C W Puech, Bernard Meunier, Isabelle Naessens, Sarah Arno, Gavin Fakin, Ana Carss, Keren J Raymond, F Lucy Webster, Andrew R Dhaenens, Claire-Marie Stöhr, Heidi Grassmann, Felix Weber, Bernhard H F Hoyng, Carel B De Baere, Elfride Albert, Silvia Collin, Rob W J Cremers, Frans P M 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)
	114.	Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. [electronic resource] by Otto, Edgar A Hurd, Toby W Airik, Rannar Chaki, Moumita Zhou, Weibin Stoetzel, Corinne Patil, Suresh B Levy, Shawn Ghosh, Amiya K Murga-Zamalloa, Carlos A van Reeuwijk, Jeroen Letteboer, Stef J F Sang, Liyun Giles, Rachel H Liu, Qin Coene, Karlien L M Estrada-Cuzcano, Alejandro Collin, Rob W J McLaughlin, Heather M Held, Susanne Kasanuki, Jennifer M Ramaswami, Gokul Conte, Jinny Lopez, Irma Washburn, Joseph Macdonald, James Hu, Jinghua Yamashita, Yukiko Maher, Eamonn R Guay-Woodford, Lisa M Neumann, Hartmut P H Obermüller, Nicholas Koenekoop, Robert K Bergmann, Carsten Bei, Xiaoshu Lewis, Richard A Katsanis, Nicholas Lopes, Vanda Williams, David S Lyons, Robert H Dang, Chi V Brito, Daniela A Dias, Mónica Bettencourt Zhang, Xinmin Cavalcoli, James D Nürnberg, Gudrun Nürnberg, Peter Pierce, Eric A Jackson, Peter K Antignac, Corinne Saunier, Sophie Roepman, Ronald Dollfus, Helene Khanna, Hemant Hildebrandt, Friedhelm Producer: 20101028 In: Nature genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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