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	2141.	Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations. [electronic resource] by Jokela, V Lassila, R Szanto, T Joutsi-Korhonen, L Armstrong, E Oyen, F Schneppenheim, S Schneppenheim, R Producer: 20140602 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2142.	A novel stop mutation in the EDNRB gene in a family with Hirschsprung's disease associated with multiple sclerosis. [electronic resource] by Granström, Anna Löf Markljung, Ellen Fink, Katharina Nordenskjöld, Edvard Nilsson, Daniel Wester, Tomas Nordenskjöld, Agneta Producer: 20141219 In: Journal of pediatric surgery vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2143.	Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly. [electronic resource] by Grotto, Sarah Drouin-Garraud, Valérie Ounap, Katrin Puusepp-Benazzouz, Helen Schuurs-Hoeijmakers, Janneke Le Meur, Nathalie Chambon, Pascal Fehrenbach, Séverine van Bokhoven, Hans Frébourg, Thierry de Brouwer, Arjan P M Saugier-Veber, Pascale Producer: 20141209 In: European journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2144.	Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. [electronic resource] by Méneret, Aurélie Depienne, Christel Riant, Florence Trouillard, Oriane Bouteiller, Delphine Cincotta, Massimo Bitoun, Pierre Wickert, Julia Lagroua, Isabelle Westenberger, Ana Borgheresi, Alessandra Doummar, Diane Romano, Marcello Rossi, Simone Defebvre, Luc De Meirleir, Linda Espay, Alberto J Fiori, Simona Klebe, Stephan Quélin, Chloé Rudnik-Schöneborn, Sabine Plessis, Ghislaine Dale, Russell C Sklower Brooks, Susan Dziezyc, Karolina Pollak, Pierre Golmard, Jean-Louis Vidailhet, Marie Brice, Alexis Roze, Emmanuel Producer: 20140811 In: Neurology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2145.	Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene. [electronic resource] by Okamura, Ken Abe, Yuko Fukai, Kazuyoshi Tsuruta, Daisuke Suga, Yasushi Nakamura, Motonobu Funasaka, Yoko Oka, Masahiro Suzuki, Noriyuki Wataya-Kaneda, Mari Seishima, Mariko Hozumi, Yutaka Kawaguchi, Masakazu Suzuki, Tamio Producer: 20160301 In: Journal of dermatological science vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2146.	Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome. [electronic resource] by Fu, Jie Wen, Zhe Wang, Fenghua Zhong, Wei He, Qiuming Liang, Qifeng Zhang, Siyuan Kuang, Yashu Liu, Xiaodan Zhu, Deli Yu, Jiakang Qiu, Xiu Xia, Huimin Producer: 20160706 In: Genetic testing and molecular biomarkers vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2147.	Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole. [electronic resource] by Ito, Yuki Maehara, Kayoko Kaneki, Eisuke Matsuoka, Kentaro Sugahara, Naoko Miyata, Tomoko Kamura, Hiromi Yamaguchi, Yuko Kono, Ayako Nakabayashi, Kazuhiko Migita, Ohsuke Higashimoto, Ken Soejima, Hidenobu Okamoto, Aikou Nakamura, Hitomi Kimura, Tadashi Wake, Norio Taniguchi, Takeshi Hata, Kenichiro Producer: 20170417 In: Gynecologic and obstetric investigation vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2148.	Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma. [electronic resource] by Li, M Yang, L Shi, H Guo, B Dai, X Yao, Z Zhang, G Producer: 20140129 In: The British journal of dermatology vol. 169 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2149.	Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation. [electronic resource] by Liang, Jian-Tao Huo, Li-Rong Bao, Yu-Hai Wang, Zhen-Yu Ling, Feng Producer: 20140718 In: Neuroscience bulletin vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2150.	A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy. [electronic resource] by Thoeni, Cornelia Amir, Achiya Guo, Conghui Zhang, S Avitzur, Yaron Heng, Y M Cutz, Ernest Muise, Aleixo M Producer: 20140818 In: Journal of pediatric gastroenterology and nutrition vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2151.	A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome. [electronic resource] by Nirenberg, M J Chaouni, R Biller, T M Gilbert, R M Paisán-Ruiz, C Producer: 20180806 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2152.	A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. [electronic resource] by Palmer, Elizabeth E Kumar, Raman Gordon, Christopher T Shaw, Marie Hubert, Laurence Carroll, Renee Rio, Marlène Murray, Lucinda Leffler, Melanie Dudding-Byth, Tracy Oufadem, Myriam Lalani, Seema R Lewis, Andrea M Xia, Fan Tam, Allison Webster, Richard Brammah, Susan Filippini, Francesca Pollard, John Spies, Judy Minoche, Andre E Cowley, Mark J Risen, Sarah Powell-Hamilton, Nina N Tusi, Jessica E Immken, LaDonna Nagakura, Honey Bole-Feysot, Christine Nitschké, Patrick Garrigue, Alexandrine de Saint Basile, Geneviève Kivuva, Emma Scott, Richard H Rendon, Augusto Munnich, Arnold Newman, William Kerr, Bronwyn Besmond, Claude Rosenfeld, Jill A Amiel, Jeanne Field, Michael Gecz, Jozef Producer: 20180102 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2153.	A Coding Variant in the Gene Bardet-Biedl Syndrome 4 ( [electronic resource] by Chew, Tracy Haase, Bianca Bathgate, Roslyn Willet, Cali E Kaukonen, Maria K Mascord, Lisa J Lohi, Hannes T Wade, Claire M Producer: 20180321 In: G3 (Bethesda, Md.) vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2154.	Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing. [electronic resource] by Khan, Amjad Wang, Rongrong Han, Shirui Ahmad, Wasim Zhang, Xue Producer: 20181011 In: Genetic testing and molecular biomarkers vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2155.	PMO Delivery System Using Bubble Liposomes and Ultrasound Exposure for Duchenne Muscular Dystrophy Treatment. [electronic resource] by Negishi, Yoichi Ishii, Yuko Nirasawa, Kei Sasaki, Eri Endo-Takahashi, Yoko Suzuki, Ryo Maruyama, Kazuo Producer: 20180605 In: Methods in molecular biology (Clifton, N.J.) vol. 1687 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2156.	A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome. [electronic resource] by Hamzeh, Abdul Rezzak Nair, Pratibha Mohamed, Madiha Saif, Fatima Tawfiq, Nafisa Al-Ali, Mahmoud Taleb Bastaki, Fatma Producer: 20170210 In: European journal of medical genetics vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2157.	Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia. [electronic resource] by Yu, Miao Liu, Yang Liu, Haochen Wong, Sing-Wai He, Huiying Zhang, Xiaoxia Wang, Yue Han, Dong Feng, Hailan Producer: 20200212 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2158.	Readthrough of ACTN3 577X nonsense mutation produces full-length α-actinin-3 protein. [electronic resource] by Harada, Nagakatsu Hatakeyama, Adzumi Okuyama, Maiko Miyatake, Yumiko Nakagawa, Tadahiko Kuroda, Masashi Masumoto, Saeko Tsutsumi, Rie Nakaya, Yutaka Sakaue, Hiroshi Producer: 20181105 In: Biochemical and biophysical research communications vol. 502 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2159.	Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency. [electronic resource] by Frew, Jonathan Baradaran-Heravi, Alireza Balgi, Aruna D Wu, Xiujuan Yan, Tyler D Arns, Steve Shidmoossavee, Fahimeh S Tan, Jason Jaquith, James B Jansen-West, Karen R Lynn, Francis C Gao, Fen-Biao Petrucelli, Leonard Feldman, Howard H Mackenzie, Ian R Roberge, Michel Nygaard, Haakon B Producer: 20210319 In: Molecular neurodegeneration vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2160.	Defects in RNA splicing and the consequence of shortened translational reading frames. [electronic resource] by Maquat, L E Producer: 19960925 In: American journal of human genetics vol. 59 Availability: No items available. Save to lists Add to cart (remove)

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