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	2421.	Role of the vector genome and underlying factor IX mutation in immune responses to AAV gene therapy for hemophilia B. [electronic resource] by Rogers, Geoffrey L Martino, Ashley T Zolotukhin, Irene Ertl, Hildegund C J Herzog, Roland W Producer: 20140905 In: Journal of translational medicine vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2422.	Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing. [electronic resource] by Lyu, C Xue, F Liu, X Liu, W Fu, R Sun, T Wu, R Zhang, L Li, H Zhang, D Yang, R Zhang, L Producer: 20170315 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2423.	Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. [electronic resource] by Nasca, Alessia Legati, Andrea Baruffini, Enrico Nolli, Cecilia Moroni, Isabella Ardissone, Anna Goffrini, Paola Ghezzi, Daniele Producer: 20171215 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2424.	Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax. [electronic resource] by Zhu, J-F Shen, X-Q Zhu, F Tian, L Producer: 20170602 In: QJM : monthly journal of the Association of Physicians vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2425.	Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. [electronic resource] by Bedeschi, Maria Francesca Marangi, Giuseppe Calvello, Maria Rosaria Ricciardi, Stefania Leone, Francesca Pia Chiara Baccarin, Marco Guerneri, Silvana Orteschi, Daniela Murdolo, Marina Lattante, Serena Frangella, Silvia Keena, Beth Harr, Margaret H Zackai, Elaine Zollino, Marcella Producer: 20180112 In: European journal of medical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2426.	Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial. [electronic resource] by Masunaga, Takuji Kubo, Akiharu Ishiko, Akira Producer: 20181011 In: The Journal of dermatology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2427.	Mutations in TBR1 gene leads to cortical malformations and intellectual disability. [electronic resource] by Vegas, Nancy Cavallin, Mara Kleefstra, Tjitske de Boer, Lonneke Philbert, Marion Maillard, Camille Boddaert, Nathalie Munnich, Arnold Hubert, Laurence Bery, Amandine Besmond, Claude Bahi-Buisson, Nadia Producer: 20190222 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)
	2428.	Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China. [electronic resource] by Wang, Peng Yu, Shirong Liu, Jianyong Zhang, Dezhi Kang, Xiaojing Producer: 20200622 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2429.	Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association. [electronic resource] by Knight, Samantha VanHouwelingen, Lisa Cervi, David Clay, Michael R Corkins, Mark Hines-Dowell, Stacy Hamilton, Kayla V Mostafavi, Roya Ward, Jewell Furman, Wayne L Murphy, Andrew Jackson Producer: 20190507 In: Pediatric blood & cancer vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2430.	A paternally inherited non-sense variant c.424G>T (p.G142*) in the first exon of XLαs in an adult patient with hypophosphatemia and osteopetrosis. [electronic resource] by Chen, Xiang Meng, Yang Tang, Mengjia Wang, Yan Xie, Ying Wan, Shan Tian, Haoming Yu, Xijie Producer: 20210607 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2431.	The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia. [electronic resource] by Pashaei, Mahdieh Rahimi Bidgoli, Mohammad Masoud Zare-Abdollahi, Davood Najmabadi, Hossein Haji-Seyed-Javadi, Ramona Fatehi, Farzad Alavi, Afagh Producer: 20201204 In: Journal of assisted reproduction and genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2432.	Extensive RNA editing and possible double-stranded structures determining editing sites in the atpB transcripts of hornwort chloroplasts. [electronic resource] by Yoshinaga, K Kakehi, T Shima, Y Iinuma, H Masuzawa, T Ueno, M Producer: 19980120 In: Nucleic acids research vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2433.	Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene. [electronic resource] by Varon, R Magdorf, K Staab, D Wahn, H U Krawczak, M Sperling, K Reis, A Producer: 19951215 In: Human molecular genetics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2434.	Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. [electronic resource] by Jacobson, N Andrews, M Shepard, A R Nishimura, D Searby, C Fingert, J H Hageman, G Mullins, R Davidson, B L Kwon, Y H Alward, W L Stone, E M Clark, A F Sheffield, V C Producer: 20010315 In: Human molecular genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2435.	First Spanish case of thalassemia major due to a compound heterozygosity for the IVS-II-848 (C --> A) and codon 39 (C --> T) mutations of the beta-globin gene. [electronic resource] by Ropero, Paloma Villegas, Ana Muñoz, Juan Briceño, Olga Mora, Asunción Salvador, María Polo, Marta González, Fernando A Producer: 20060703 In: Hemoglobin vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2436.	Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. [electronic resource] by Cho, Hyun-Jung Sung, Duck Hyun Kim, Eun-Jin Yoon, Chul Ho Ki, Chang-Seok Kim, Jong-Won Producer: 20061019 In: Journal of Korean medical science vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2437.	[Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene]. [electronic resource] by Xie, Bing-shou Xie, Shuang Chen, Ping Zhu, Miao-yong Zheng, Jia-yong Wang, Xue-feng Fu, Qi-hua Zhou, Rong-fu Wang, Wen-bin Wu, Wen-man Ding, Qiu-lan Wang, Hong-li Hu, Li-ming Producer: 20081203 In: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi vol. 25 Availability: No items available. Save to lists Add to cart (remove)
	2438.	Studies point way to new therapeutic prospects for muscular dystrophy. [electronic resource] by Kuehn, Bridget M Producer: 20071001 In: JAMA vol. 298 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2439.	Gene symbol: MYH7. [electronic resource] by Iascone, M R Marchetti, D Ferrazzi, P Producer: 20070502 In: Human genetics vol. 120 Availability: No items available. Save to lists Add to cart (remove)
	2440.	A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin. [electronic resource] by Yang, Chunmei Feng, Jinong Song, Wenjia Wang, Jicheng Tsai, Becky Zhang, Yunwu Scaringe, William A Hill, Kathleen A Margaritis, Paris High, Katherine A Sommer, Steve S Producer: 20071026 In: Proceedings of the National Academy of Sciences of the United States of America vol. 104 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.