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	1.	NMNAT1 variants cause cone and cone-rod dystrophy. [electronic resource] by Nash, Benjamin M Symes, Richard Goel, Himanshu Dinger, Marcel E Bennetts, Bruce Grigg, John R Jamieson, Robyn V Producer: 20181221 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)
	2.	Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene. [electronic resource] by Maia, Célia Márcia Fernandes Machado, Renato Assis Gil-da-Silva-Lopes, Vera Lúcia Lustosa-Mendes, Elaine Rim, Priscila Hae Hyun Dias, Verônica Oliveira Martelli, Daniella Reis Barbosa Nasser, Luciano Sólia Coletta, Ricardo D Martelli-Júnior, Hercílio Producer: 20181010 In: European journal of medical genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. [electronic resource] by Jin, Xin Chen, Lanlan Wang, Dajiang Zhang, Yixin Chen, Zehua Huang, Houbin Producer: 20190410 In: Ophthalmic genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Therapeutic Window for Phosphodiesterase 6-Related Retinitis Pigmentosa. [electronic resource] by Wang, Nan-Kai Mahajan, Vinit B Tsang, Stephen H Producer: 20200206 In: JAMA ophthalmology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation. [electronic resource] by Nasser, F Mulahasanovic, L Alkhateeb, M Biskup, S Stingl, K Zrenner, E Producer: 20190517 In: Documenta ophthalmologica. Advances in ophthalmology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT. [electronic resource] by Bedoukian, Emma C Zhu, Xiaosong Serrano, Leona W Scoles, Drew Aleman, Tomas S Producer: 20220428 In: Retinal cases & brief reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	[Research progress of treatment strategies for retinitis pigmentosa]. [electronic resource] by Qian, T W Xu, X Producer: 20170802 In: [Zhonghua yan ke za zhi] Chinese journal of ophthalmology vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. [electronic resource] by Skorczyk-Werner, Anna Chiang, Wei-Chieh Wawrocka, Anna Wicher, Katarzyna Jarmuż-Szymczak, Małgorzata Kostrzewska-Poczekaj, Magdalena Jamsheer, Aleksander Płoski, Rafał Rydzanicz, Małgorzata Pojda-Wilczek, Dorota Weisschuh, Nicole Wissinger, Bernd Kohl, Susanne Lin, Jonathan H Krawczyński, Maciej R Producer: 20180201 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	RP2 Rod-Cone Dystrophy Causes Spasmus Nutans-Like Nystagmus. [electronic resource] by Yoo, Tae Keun Han, Sueng-Han Han, Jinu Producer: 20211203 In: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. [electronic resource] by Jespersgaard, Cathrine Hey, Amalie Brunbjerg Ilginis, Tomas Hjortshøj, Tina Duelund Fang, Mingyan Bertelsen, Mette Bech, Niels Jensen, Hanne Larsen, Lasse Jonsgaard Tümer, Zeynep Rosenberg, Thomas Brøndum-Nielsen, Karen Møller, Lisbeth Birk Grønskov, Karen 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)
	11.	[Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy]. [electronic resource] by Wang, Liming Hao, Peng Ying, Ming Han, Ruifang Wang, Yuchuan Gao, Juan Yuan, Xiaoyong Li, Xuan Producer: 20191120 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR). [electronic resource] by Tsang, Stephen H Sharma, Tarun Producer: 20190723 In: Advances in experimental medicine and biology vol. 1085 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. [electronic resource] by Huang, Li Xiao, Xueshan Li, Shiqiang Jia, Xiaoyun Wang, Panfeng Sun, Wenmin Xu, Yan Xin, Wei Guo, Xiangming Zhang, Qingjiong Producer: 20170525 In: Experimental eye research vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Different allelic frequency of progressive rod-cone degeneration in two populations of Labrador Retrievers in Japan. [electronic resource] by Takanosu, Masamine Producer: 20180917 In: The Journal of veterinary medical science vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Mizuo-Nakamura phenomenon in cone-rod dystrophy. [electronic resource] by Kumar, Vinod Goel, Neha Bhaskaran, Ullattil K Garg, Itika Producer: 20180223 In: Clinical & experimental optometry vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	CDHR1 mutations in retinal dystrophies. [electronic resource] by Stingl, Katarina Mayer, Anja K Llavona, Pablo Mulahasanovic, Lejla Rudolph, Günther Jacobson, Samuel G Zrenner, Eberhart Kohl, Susanne Wissinger, Bernd Weisschuh, Nicole Producer: 20190208 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Features, genetics and their correlation in Jalili syndrome: a systematic review. [electronic resource] by Daneshmandpour, Yousef Darvish, Hossein Pashazadeh, Fariba Emamalizadeh, Babak Producer: 20200604 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report. [electronic resource] by Wang, Lihua Qi, Anhui Pan, Hong Liu, Beihong Feng, Jingjing Chen, Wei Wang, Binbin Producer: 20180817 In: Medicine vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Toni Mochty: Bardet Biedl syndrome "avant la lettre". [electronic resource] by de Herder, Wouter Producer: 20210204 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. [electronic resource] by Prasov, Lev Ullah, Ehsan Turriff, Amy E Warner, Blake M Conley, Julie Mark, Paul R Hufnagel, Robert B Huryn, Laryssa A Producer: 20210104 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)

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Your search returned 107 results.