Your search returned 5852 results.

Results
	2501.	Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3). [electronic resource] by Arno, Gavin Holder, Graham E Chakarova, Christina Kohl, Susanne Pontikos, Nikolas Fiorentino, Alessia Plagnol, Vincent Cheetham, Michael E Hardcastle, Alison J Webster, Andrew R Michaelides, Michel Producer: 20170522 In: JAMA ophthalmology vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2502.	Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency. [electronic resource] by Branchini, A Ferrarese, M Lombardi, S Mari, R Bernardi, F Pinotti, M Producer: 20171227 In: Journal of thrombosis and haemostasis : JTH vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2503.	Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria. [electronic resource] by Banning, Antje Schiff, Manuel Tikkanen, Ritva Producer: 20180423 In: Biochimica et biophysica acta. Molecular basis of disease vol. 1864 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2504.	A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. [electronic resource] by Méjécase, C Mohand-Saïd, S El Shamieh, S Antonio, A Condroyer, C Blanchard, S Letexier, M Saraiva, J-P Sahel, J-A Audo, I Zeitz, C Producer: 20190911 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2505.	Unusual case of cerebral small vessel disease with a heterozygous nonsense mutation in HTRA1. [electronic resource] by Tateoka, Toru Onda, Hideaki Hirota, Kengo Kasuya, Hidetoshi Shinohara, Toyoaki Kinouchi, Hiroyuki Akagawa, Hiroyuki Producer: 20161213 In: Journal of the neurological sciences vol. 362 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2506.	Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. [electronic resource] by Shima, Tomoko Yamamoto, Yuki Kanazawa, Nobuo Murata, Ken-Ya Ito, Hidefumi Kondo, Toshikazu Yuan, Junhui Hashiguchi, Akihiro Takashima, Hiroshi Furukawa, Fukumi Producer: 20190813 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)
	2507.	TNNT1 nemaline myopathy: natural history and therapeutic frontier. [electronic resource] by Fox, Michael D Carson, Vincent J Feng, Han-Zhong Lawlor, Michael W Gray, John T Brigatti, Karlla W Jin, J-P Strauss, Kevin A Producer: 20190312 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2508.	TP63-truncating variants cause isolated premature ovarian insufficiency. [electronic resource] by Tucker, Elena J Jaillard, Sylvie Grover, Sonia R van den Bergen, Jocelyn Robevska, Gorjana Bell, Katrina M Sadedin, Simon Hanna, Chloe Dulon, Jérôme Touraine, Philippe Sinclair, Andrew H Producer: 20200317 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2509.	Novel [electronic resource] by Shang, Yong-Liang Zhu, Fu-Xi Yan, Jie Chen, Liang Tang, Wen-Hao Xiao, Sai Mo, Wei-Ke Zhang, Zhi-Guo He, Xiao-Jin Qiao, Jie Cao, Yun-Xia Li, Wei Producer: 20200410 In: Asian journal of andrology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2510.	Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. [electronic resource] by Ishii, Jun Suzuki, Atsushi Kimura, Toru Tateyama, Michihiro Tanaka, Tatsushi Yazawa, Takuya Arimasu, Yu Chen, I-Shan Aoyama, Kohei Kubo, Yoshihiro Saitoh, Shinji Mizuno, Haruo Kamma, Hiroshi Producer: 20200505 In: Communications biology vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2511.	Phenotype of ENAM mutations is dosage-dependent. [electronic resource] by Ozdemir, D Hart, P S Firatli, E Aren, G Ryu, O H Hart, T C Producer: 20051215 In: Journal of dental research vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2512.	SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. [electronic resource] by Hagstrom, Stephanie A Pauer, Gayle J T Reid, Janet Simpson, Ellen Crowe, Sue Maumenee, Irene H Traboulsi, Elias I Producer: 20051025 In: American journal of medical genetics. Part A vol. 138A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2513.	Gene symbol: SCN5A. Disease: Brugada syndrome. [electronic resource] by Arbustini, E Scaffino, M F Diegoli, M Maziliano, N Grasso, M Pasotti, M Baraldi, P Zennaro, R G Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	2514.	Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families. [electronic resource] by Ozbek, Mehmet Nuri Uslu, Abdi Burak Onenli-Mungan, Neslihan Yuksel, Bilgin Pohlenz, Joachim Topaloglu, Ali Kemal Producer: 20100223 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2515.	A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy. [electronic resource] by Hirota, Takayoshi Kubo, Toru Kitaoka, Hiroaki Hamada, Tomoyuki Baba, Yuichi Hayato, Kayo Okawa, Makoto Yamasaki, Naohito Matsumura, Yoshihisa Yabe, Toshikazu Doi, Yoshinori L Producer: 20100930 In: Journal of cardiology vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2516.	A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defects. [electronic resource] by Samani, Kaveh Ai, Tomohiko Towbin, Jeffrey A Brugada, Ramon Shuraih, Mossaab Xi, Yutao Wu, Geru Cheng, Jie Vatta, Matteo Producer: 20091112 In: Pacing and clinical electrophysiology : PACE vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2517.	Gene symbol: LAMP2. Disease: Danon disease. [electronic resource] by Iascone, Maria Iacovoni, Attilio Marchetti, Daniela Ferrazzi, Paolo Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	2518.	Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. [electronic resource] by Balsamo, Antonio Cicognani, Alessandro Gennari, Monia Sippell, Wolfgang G Menabò, Soara Baronio, Federico Riepe, Felix G Producer: 20070329 In: European journal of endocrinology vol. 156 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2519.	Preventing dangerous nonsense: selection for robustness to transcriptional error in human genes. [electronic resource] by Cusack, Brian P Arndt, Peter F Duret, Laurent Roest Crollius, Hugues Producer: 20120210 In: PLoS genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2520.	Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. [electronic resource] by Sattler, Elke C Lang, Martin U van Steensel, Maurice A M van Geel, Michel Schneider, Josef J Flaig, Michael J Ruzicka, Thomas Burgdorf, Walter Steinlein, Ortrud K Producer: 20120716 In: Acta dermato-venereologica vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.