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	5381.	POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. [electronic resource] by Kitano, Tomohiro Miyagawa, Maiko Nishio, Shin-Ya Moteki, Hideaki Oda, Kiyoshi Ohyama, Kenji Miyazaki, Hiromitsu Hidaka, Hiroshi Nakamura, Ken-Ichi Murata, Takaaki Matsuoka, Rina Ohta, Yoko Nishiyama, Nobuhiro Kumakawa, Kozo Furutate, Sakiko Iwasaki, Satoshi Yamada, Takechiyo Ohta, Yumi Uehara, Natsumi Noguchi, Yoshihiro Usami, Shin-Ichi Producer: 20170915 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5382.	DHPLC analysis of the MECP2 gene in Italian Rett patients. [electronic resource] by Nicolao, P Carella, M Giometto, B Tavolato, B Cattin, R Giovannucci-Uzielli, M L Vacca, M Della Regione, F Piva, S Bortoluzzi, S Gasparini, P Producer: 20011204 In: Human mutation vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5383.	X-linked chronic granulomatous disease: first report of mutations in patients of Argentina. [electronic resource] by Barese, Cecilia Copelli, Silvia Zandomeni, Rubén Oleastro, Matías Zelazko, Marta Rivas, Eva María Producer: 20041122 In: Journal of pediatric hematology/oncology vol. 26 Availability: No items available. Save to lists Add to cart (remove)
	5384.	The P2 receptors and congenital platelet function defects. [electronic resource] by Cattaneo, Marco Producer: 20050919 In: Seminars in thrombosis and hemostasis vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5385.	Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. [electronic resource] by Yang, Zhao McMahon, Colin J Smith, Liana R Bersola, Jeathrina Adesina, Adekunle M Breinholt, John P Kearney, Debra L Dreyer, William J Denfield, Susan W Price, Jack F Grenier, Michelle Kertesz, Naomi J Clunie, Sarah K Fernbach, Susan D Southern, James F Berger, Stuart Towbin, Jeffrey A Bowles, Karla R Bowles, Neil E Producer: 20060221 In: Circulation vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5386.	Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor. [electronic resource] by Yuan, Zeng-Rong Kobayashi, Noboru Kohsaka, Takao Producer: 20061108 In: Journal of molecular biology vol. 356 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5387.	Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. [electronic resource] by Thiele, Holger du Moulin, Marcel Barczyk, Katarzyna George, Christel Schwindt, Wolfram Nürnberg, Gudrun Frosch, Michael Kurlemann, Gerhard Roth, Johannes Nürnberg, Peter Rutsch, Frank Producer: 20101216 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5388.	Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. [electronic resource] by Nejentsev, Sergey Walker, Neil Riches, David Egholm, Michael Todd, John A Producer: 20090429 In: Science (New York, N.Y.) vol. 324 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5389.	Outcome from surgery for vestibular schwannomas in children. [electronic resource] by MacNally, Stephen P Rutherford, Scott A King, Andrew T Freeman, Simon Thorne, John Mawman, Deborah O'Driscoll, Martin P Evans, D G Ramsden, Richard T Producer: 20091209 In: British journal of neurosurgery vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5390.	ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase. [electronic resource] by Liu, Li-Yan Wang, Zhong-Lin Wang, Xiao-Hong Zhu, Qi-Rong Wang, Jian-She Producer: 20101026 In: Liver international : official journal of the International Association for the Study of the Liver vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5391.	A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. [electronic resource] by Kleppa, L Kanavin, Ø J Klungland, A Strømme, P Producer: 20070622 In: Neuroscience vol. 145 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5392.	Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. [electronic resource] by Cornier, Alberto S Staehling-Hampton, Karen Delventhal, Kym M Saga, Yumiko Caubet, Jean-Francois Sasaki, Nobuo Ellard, Sian Young, Elizabeth Ramirez, Norman Carlo, Simon E Torres, Jose Emans, John B Turnpenny, Peter D Pourquié, Olivier Producer: 20080627 In: American journal of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5393.	Large-scale analysis of KIT aberrations in Chinese patients with melanoma. [electronic resource] by Kong, Yan Si, Lu Zhu, Yanyan Xu, Xiaowei Corless, Christopher L Flaherty, Keith T Li, Li Li, Haifu Sheng, Xinan Cui, Chuanliang Chi, Zhihong Li, Siming Han, Mei Mao, Lili Lu, Aiping Guo, Jun Producer: 20110721 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5394.	The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex. [electronic resource] by Huang, Cheng-Hsien Peng, Steven Shinn-Forng Weng, Wen-Chin Su, Yi-Ning Lee, Wang-Tso Producer: 20161114 In: Journal of the Formosan Medical Association = Taiwan yi zhi vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5395.	Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. [electronic resource] by Freischmidt, Axel Wieland, Thomas Richter, Benjamin Ruf, Wolfgang Schaeffer, Veronique Müller, Kathrin Marroquin, Nicolai Nordin, Frida Hübers, Annemarie Weydt, Patrick Pinto, Susana Press, Rayomond Millecamps, Stéphanie Molko, Nicolas Bernard, Emilien Desnuelle, Claude Soriani, Marie-Hélène Dorst, Johannes Graf, Elisabeth Nordström, Ulrika Feiler, Marisa S Putz, Stefan Boeckers, Tobias M Meyer, Thomas Winkler, Andrea S Winkelman, Juliane de Carvalho, Mamede Thal, Dietmar R Otto, Markus Brännström, Thomas Volk, Alexander E Kursula, Petri Danzer, Karin M Lichtner, Peter Dikic, Ivan Meitinger, Thomas Ludolph, Albert C Strom, Tim M Andersen, Peter M Weishaupt, Jochen H Producer: 20150709 In: Nature neuroscience vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5396.	A murine Zic3 transcript with a premature termination codon evades nonsense-mediated decay during axis formation. [electronic resource] by Ahmed, Jehangir N Ali, Radiya G Warr, Nicholas Wilson, Heather M Bellchambers, Helen M Barratt, Kristen S Thompson, Amelia J Arkell, Ruth M Producer: 20131029 In: Disease models & mechanisms vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5397.	Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening. [electronic resource] by Aldave, Anthony J Ann, Lydia B Frausto, Ricardo F Nguyen, Catherine K Yu, Fei Raber, Irving M Producer: 20140203 In: JAMA ophthalmology vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5398.	Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. [electronic resource] by Shaheen, Ranad Anazi, Shams Ben-Omran, Tawfeg Seidahmed, Mohammed Zain Caddle, L Brianna Palmer, Kristina Ali, Rehab Alshidi, Tarfa Hagos, Samya Goodwin, Leslie Hashem, Mais Wakil, Salma M Abouelhoda, Mohamed Colak, Dilek Murray, Stephen A Alkuraya, Fowzan S Producer: 20160829 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5399.	Next-generation panel sequencing identifies [electronic resource] by Gieldon, Laura Masjkur, Jimmy Rusdian Richter, Susan Därr, Roland Lahera, Marcos Aust, Daniela Zeugner, Silke Rump, Andreas Hackmann, Karl Tzschach, Andreas Januszewicz, Andrzej Prejbisz, Aleksander Eisenhofer, Graeme Schrock, Evelin Robledo, Mercedes Klink, Barbara Producer: 20180110 In: European journal of endocrinology vol. 178 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5400.	VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease. [electronic resource] by Mathó, Cecilia Sansó, Gabriela Diez, Blanca Barontini, Marta Pennisi, Patricia A Producer: 20170404 In: Genetic testing and molecular biomarkers vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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