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	41.	Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290. [electronic resource] by Duijkers, Lonneke van den Born, L Ingeborgh Neidhardt, John Bax, Nathalie M Pierrache, Laurence H M Klevering, B Jeroen Collin, Rob W J Garanto, Alejandro Producer: 20180827 In: International journal of molecular sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. [electronic resource] by Nikopoulos, Konstantinos Schrauwen, Isabelle Simon, Marleen Collin, Rob W J Veckeneer, Marc Keymolen, Kathelijn Van Camp, Guy Cremers, Frans P M van den Born, L Ingeborgh Producer: 20110906 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)
	43.	A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. [electronic resource] by Azam, Maleeha Collin, Rob W J Khan, Muhammad Imran Shah, Syed Tahir Abbas Qureshi, Nadeem Ajmal, Muhammad den Hollander, Anneke I Qamar, Raheel Cremers, Frans P M Producer: 20091028 In: Molecular vision vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	44.	Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. [electronic resource] by Albert, Silvia Garanto, Alejandro Sangermano, Riccardo Khan, Mubeen Bax, Nathalie M Hoyng, Carel B Zernant, Jana Lee, Winston Allikmets, Rando Collin, Rob W J Cremers, Frans P M Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature. [electronic resource] by Karjosukarso, Dyah W Ali, Zaheer Peters, Theo A Zhang, Jia Qi Cheng Hoogendoorn, Anita D M Garanto, Alejandro van Wijk, Erwin Jensen, Lasse D Collin, Rob W J Producer: 20200415 In: Investigative ophthalmology & visual science vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	In or Out? New Insights on Exon Recognition through Splice-Site Interdependency. [electronic resource] by Khan, Mubeen Cornelis, Stéphanie S Sangermano, Riccardo Post, Iris J M Groesbeek, Amber Janssen Amsu, Jan Gilissen, Christian Garanto, Alejandro Collin, Rob W J Cremers, Frans P M Producer: 20201216 In: International journal of molecular sciences vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. [electronic resource] by Astuti, Galuh D N Bertelsen, Mette Preising, Markus N Ajmal, Muhammad Lorenz, Birgit Faradz, Sultana M H Qamar, Raheel Collin, Rob W J Rosenberg, Thomas Cremers, Frans P M Producer: 20170726 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)
	48.	Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa. [electronic resource] by Khan, Muhammad Imran Collin, Rob W J Arimadyo, Kentar Micheal, Shazia Azam, Maleeha Qureshi, Nadeem Faradz, Sultana M H den Hollander, Anneke I Qamar, Raheel Cremers, Frans P M Producer: 20110208 In: Molecular vision vol. 16 Availability: No items available. Save to lists Add to cart (remove)
	49.	Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene. [electronic resource] by van Huet, Ramon A C Estrada-Cuzcano, Alejandro Banin, Eyal Rotenstreich, Ygal Hipp, Stephanie Kohl, Susanne Hoyng, Carel B den Hollander, Anneke I Collin, Rob W J Klevering, B Jeroen Producer: 20130909 In: Investigative ophthalmology & visual science vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. [electronic resource] by de Heer, Anne-Martine R Collin, Rob W J Huygen, Patrick L M Schraders, Margit Oostrik, Jaap Rouwette, Myrthe Kunst, Henricus P M Kremer, Hannie Cremers, Cor W R J Producer: 20110425 In: Audiology & neuro-otology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68. [electronic resource] by Littink, Karin W Stappers, Patricia T Y Riemslag, Frans C C Talsma, Herman E van Genderen, Maria M Cremers, Frans P M Collin, Rob W J van den Born, L Ingeborgh Publication details: Genes 03 2018 In: Genes vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. [electronic resource] by Littink, Karin W Stappers, Patricia T Y Riemslag, Frans C C Talsma, Herman E van Genderen, Maria M Cremers, Frans P M Collin, Rob W J van den Born, L Ingeborgh Publication details: Genes Jan 2018 In: Genes vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	Non-syndromic retinitis pigmentosa. [electronic resource] by Verbakel, Sanne K van Huet, Ramon A C Boon, Camiel J F den Hollander, Anneke I Collin, Rob W J Klaver, Caroline C W Hoyng, Carel B Roepman, Ronald Klevering, B Jeroen Producer: 20190314 In: Progress in retinal and eye research vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	None [electronic resource] by Sangermano, Riccardo Khan, Mubeen Cornelis, Stéphanie S Richelle, Valerie Albert, Silvia Garanto, Alejandro Elmelik, Duaa Qamar, Raheel Lugtenberg, Dorien van den Born, L Ingeborgh Collin, Rob W J Cremers, Frans P M Producer: 20180807 In: Genome research vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	55.	Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa. [electronic resource] by Ajmal, Muhammad Khan, Muhammad Imran Micheal, Shazia Ahmed, Waqas Shah, Ashfa Venselaar, Hanka Bokhari, Habib Azam, Aisha Waheed, Nadia Khalida Collin, Rob W J den Hollander, Anneke I Qamar, Raheel Cremers, Frans P M Producer: 20121213 In: Molecular vision vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	56.	Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. [electronic resource] by Collin, Rob W J Safieh, Christine Littink, Karin W Shalev, Stavit A Garzozi, Hanna J Rizel, Leah Abbasi, Anan H Cremers, Frans P M den Hollander, Anneke I Klevering, B Jeroen Ben-Yosef, Tamar Producer: 20100621 In: American journal of human genetics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	57.	Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease. [electronic resource] by de Haas, Ria Das, Devashish Garanto, Alejandro Renkema, Herma G Greupink, Rick van den Broek, Petra Pertijs, Jeanne Collin, Rob W J Willems, Peter Beyrath, Julien Heerschap, Arend Russel, Frans G Smeitink, Jan A Producer: 20190723 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	58.	The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. [electronic resource] by Peluso, Ivana Conte, Ivan Testa, Francesco Dharmalingam, Gopuraja Pizzo, Mariateresa Collin, Rob W J Meola, Nicola Barbato, Sara Mutarelli, Margherita Ziviello, Carmela Barbarulo, Anna Maria Nigro, Vincenzo Melone, Mariarosa A B Simonelli, Francesca Banfi, Sandro Producer: 20130723 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	59.	Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. [electronic resource] by Ajmal, Muhammad Khan, Muhammad Imran Neveling, Kornelia Khan, Yar Muhammad Ali, Syeda Hafiza Benish Ahmed, Waqas Iqbal, Muhammad Safdar Azam, Maleeha den Hollander, Anneke I Collin, Rob W J Qamar, Raheel Cremers, Frans P M Producer: 20121113 In: Molecular vision vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	60.	CLRN1 mutations cause nonsyndromic retinitis pigmentosa. [electronic resource] by Khan, Muhammad Imran Kersten, Ferry F J Azam, Maleeha Collin, Rob W J Hussain, Alamdar Shah, Syed Tahir-A Keunen, Jan E E Kremer, Hannie Cremers, Frans P M Qamar, Raheel den Hollander, Anneke I Producer: 20110905 In: Ophthalmology vol. 118 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 114 results.