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	721.	Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. [electronic resource] by Riveiro, R Trujillo-Tiebas, M J Gimenez, A Garcia-Hoyos, M Cantalapiedra, D Vallespin, E Queipo, A Ramos, C Ayuso, C Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	722.	Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. [electronic resource] by Riveiro, R Trujillo-Tiebas, M J Gimenez, A Garcia-Hoyos, M Cantalapiedra, D Vallespin, E Queipo, A Ramos, C Ayuso, C Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	723.	Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. [electronic resource] by Riveiro, R Trujillo-Tiebas, M J Gimenez, A Garcia-Hoyos, M Cantalapiedra, D Vallespin, E Queipo, A Ramos, C Ayuso, C Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	724.	Gene symbol: MYH7. Disease: cardiomyopathy, hypertrophic. [electronic resource] by Capek, P C Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	725.	Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X). [electronic resource] by Voutetakis, Antonis Maniati-Christidi, Maria Kanaka-Gantenbein, Christina Dracopoulou, Maria Argyropoulou, Maria Livadas, Sarantis Dacou-Voutetakis, Catherine Sertedaki, Amalia Producer: 20040504 In: European journal of endocrinology vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	726.	A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. [electronic resource] by Kurban, Mazen Wajid, Muhammad Petukhova, Lynn Shimomura, Yutaka Christiano, Angela M Producer: 20120221 In: Journal of human genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	727.	A new function of ROD1 in nonsense-mediated mRNA decay. [electronic resource] by Brazão, T F Demmers, J van IJcken, W Strouboulis, J Fornerod, M Romão, L Grosveld, F G Producer: 20120720 In: FEBS letters vol. 586 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	728.	A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. [electronic resource] by Zhang, Qi-Guo Liang, Yan-Hua Producer: 20151214 In: Indian journal of dermatology, venereology and leprology vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	729.	Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation. [electronic resource] by Zamani, Gholam Reza Karami, Fatemeh Mehdizadeh, Mahshid Movafagh, Abolfazl Nilipour, Yalda Zamani, Mahdi Producer: 20160808 In: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	730.	Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia. [electronic resource] by Maor-Sagie, Esther Cinnamon, Yuval Yaacov, Barak Shaag, Avraham Goldsmidt, Hannoch Zenvirt, Shamir Laufer, Neri Richler, Carmelit Frumkin, Ayala Producer: 20160505 In: Journal of assisted reproduction and genetics vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	731.	Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan. [electronic resource] by Horiuchi, Noriyuki Kumagai, Daishiro Matsumoto, Kotaro Inokuma, Hisashi Furuoka, Hidefumi Kobayashi, Yoshiyasu Producer: 20160825 In: The Journal of veterinary medical science vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	732.	Multiple loss-of-function 5-O-glucosyltransferase alleles revealed in Vitis vinifera, but not in other Vitis species. [electronic resource] by Yang, Yingzhen Labate, Joanne A Liang, Zhenchang Cousins, Peter Prins, Bernard Preece, John E Aradhya, Mallikarjuna Zhong, Gan-Yuan Producer: 20150515 In: TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	733.	Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: the first diagnosed case from Turkey. [electronic resource] by Meral Gunes, Adalet Sezgin Evim, Melike Baytan, Birol Iwata, Atsushi Hida, Ayumi Avci, Remzi Producer: 20141118 In: Journal of pediatric hematology/oncology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	734.	The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome. [electronic resource] by Döneray, Hakan Usui, Takeshi Kaya, Avni Dönmez, Ayşe Sena Producer: 20160523 In: Journal of clinical research in pediatric endocrinology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	735.	Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal. [electronic resource] by Pinto, Carla Pinheiro, Manuela Peixoto, Ana Santos, Catarina Veiga, Isabel Rocha, Patrícia Pinto, Pedro Lopes, Paula Baptista, Manuela Henrique, Rui Teixeira, Manuel R Producer: 20170206 In: Journal of human genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	736.	Loss of Function of KCNC1 is associated with intellectual disability without seizures. [electronic resource] by Poirier, Karine Viot, Géraldine Lombardi, Laura Jauny, Clémence Billuart, Pierre Bienvenu, Thierry Producer: 20170428 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)
	737.	SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. [electronic resource] by Stattin, Eva-Lena Henning, Petra Klar, Joakim McDermott, Emma Stecksen-Blicks, Christina Sandström, Per-Erik Kellgren, Therese G Rydén, Patrik Hallmans, Göran Lönnerholm, Torsten Ameur, Adam Helfrich, Miep H Coxon, Fraser P Dahl, Niklas Wikström, Johan Lerner, Ulf H Producer: 20190109 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	738.	Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts. [electronic resource] by Verma, Sunil K Deshmukh, Vaibhav Nutter, Curtis A Jaworski, Elizabeth Jin, Wenhao Wadhwa, Lalita Abata, Joshua Ricci, Marco Lincoln, Joy Martin, James F Yeo, Gene W Kuyumcu-Martinez, Muge N Producer: 20180626 In: Scientific reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	739.	Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. [electronic resource] by Kolicheski, A Johnson, G S O'Brien, D P Mhlanga-Mutangadura, T Gilliam, D Guo, J Anderson-Sieg, T D Schnabel, R D Taylor, J F Lebowitz, A Swanson, B Hicks, D Niman, Z E Wininger, F A Carpentier, M C Katz, M L Producer: 20170530 In: Journal of veterinary internal medicine vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	740.	Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny. [electronic resource] by Ullah, Asmat Umair, Muhammad E-Kalsoom, Umm Shahzad, Shaheen Basit, Sulman Ahmad, Wasim Producer: 20180726 In: Journal of human genetics vol. 63 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 5852 results.