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	5601.	X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care. [electronic resource] by Stanton, Susan G Griffin, Anne Stockley, Tracy L Brown, Christine Young, Terry-Lynn Benteau, Tammy Abdelfatah, Nelly Producer: 20160223 In: American journal of audiology vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5602.	Low-Phospholipid Associated Cholelithiasis (LPAC) syndrome: A synthetic review. [electronic resource] by Goubault, P Brunel, T Rode, A Bancel, B Mohkam, K Mabrut, J-Y Producer: 20200717 In: Journal of visceral surgery vol. 156 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5603.	Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms. [electronic resource] by Moscu-Gregor, Alexander Marschall, Christoph Müntjes, Carsten Schönecker, Anne Schuessler-Hahn, Franziska Hohendanner, Felix Parwani, Abdul Shokor Boldt, Leif-Hendrik Ott, Claus-Eric Bennewiz, Anja Paul, Thomas Krause, Ulrich Rost, Imma Producer: 20210412 In: Journal of cardiovascular electrophysiology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5604.	Modelling in Escherichia coli of mutations in mitoribosomal protein S12: novel mutant phenotypes of rpsL. [electronic resource] by Toivonen, J M Boocock, M R Jacobs, H T Producer: 19990707 In: Molecular microbiology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5605.	Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. [electronic resource] by Anderson, Michael G Smith, Richard S Hawes, Norman L Zabaleta, Adriana Chang, Bo Wiggs, Janey L John, Simon W M Producer: 20020204 In: Nature genetics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5606.	Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. [electronic resource] by Mendell, Joshua T ap Rhys, Colette M J Dietz, Harry C Producer: 20021127 In: Science (New York, N.Y.) vol. 298 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5607.	Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β. [electronic resource] by Bashyam, Murali D Chaudhary, Ajay K Sinha, Manjari Nagarajaram, H A Devi, A Radha Rama Bashyam, Leena Reddy, E Chandrakanth Dalal, Ashwin Producer: 20130107 In: Journal of cellular biochemistry vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5608.	Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. [electronic resource] by Wu, Pengjie Zhang, Ning Wang, Xi Ning, Xianghui Li, Teng Bu, Dingfang Gong, Kan Producer: 20120813 In: Journal of human genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5609.	Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients. [electronic resource] by Yadegari, Hamideh Driesen, Julia Pavlova, Anna Biswas, Arijit Hertfelder, Hans-Jörg Oldenburg, Johannes Producer: 20130225 In: Thrombosis and haemostasis vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5610.	Normalization of Naxos plakoglobin levels restores cardiac function in mice. [electronic resource] by Zhang, Zhiwei Stroud, Matthew J Zhang, Jianlin Fang, Xi Ouyang, Kunfu Kimura, Kensuke Mu, Yongxin Dalton, Nancy D Gu, Yusu Bradford, William H Peterson, Kirk L Cheng, Hongqiang Zhou, Xinmin Chen, Ju Producer: 20150702 In: The Journal of clinical investigation vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5611.	Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. [electronic resource] by Riazuddin, S Amer Vasanth, Shivakumar Katsanis, Nicholas Gottsch, John D Producer: 20140219 In: American journal of human genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5612.	Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. [electronic resource] by Roosing, Susanne Rohrschneider, Klaus Beryozkin, Avigail Sharon, Dror Weisschuh, Nicole Staller, Jennifer Kohl, Susanne Zelinger, Lina Peters, Theo A Neveling, Kornelia Strom, Tim M van den Born, L Ingeborgh Hoyng, Carel B Klaver, Caroline C W Roepman, Ronald Wissinger, Bernd Banin, Eyal Cremers, Frans P M den Hollander, Anneke I Producer: 20130916 In: American journal of human genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5613.	Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. [electronic resource] by Fu, Lijun Luo, Sushan Cai, Shuang Hong, Wenjing Guo, Ying Wu, Jinjin Liu, Tingliang Zhao, Chongbo Li, Fen Huang, Huimin Huang, Meirong Wang, Jian Producer: 20170524 In: The American journal of cardiology vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5614.	Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense [electronic resource] by Recio, Maria J Dominguez-Pinilla, Nerea Perrig, Melina Soledad Rodriguez Vigil-Iturrate, Carmen Salmón-Rodriguez, Nerea Martinez Faci, Cristina Castro-Panete, María J Blas-Espada, Javier López-Nevado, Marta Ruiz-Garcia, Raquel Chaparro-García, Rebeca Allende, Luis M Gonzalez-Granado, Luis Ignacio Producer: 20191021 In: Frontiers in immunology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5615.	Acetyltransferases and tumour suppression. [electronic resource] by Phillips, A C Vousden, K H Producer: 20010719 In: Breast cancer research : BCR vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5616.	Identification of a new G-to-A transition mutation at nucleotide position 129 of the Xrcc4 gene in ionizing radiation-hypersensitive mutant LX830 cells. [electronic resource] by Itsukaichi, Hiromi Mori, Masahiko Nakamura, Atsuko Sato, Koki Producer: 20040505 In: Journal of radiation research vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5617.	Interferon-alpha treatment in children and young adults with chronic hepatitis B: a long-term follow-up study in Taiwan. [electronic resource] by Hsu, Hong-Yuan Tsai, Hsiu-Yuan Wu, Tzee-Chung Chiang, Cheng-Lun Ni, Yen-Hsuan Chen, Pei-Jer Chang, Mei-Hwei Producer: 20090206 In: Liver international : official journal of the International Association for the Study of the Liver vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5618.	Deleterious CHEK2 1100delC and L303X mutants identified among 38 human breast cancer cell lines. [electronic resource] by Wasielewski, Marijke Hanifi-Moghaddam, Pejman Hollestelle, Antoinette Merajver, Sofia D van den Ouweland, Ans Klijn, Jan G M Ethier, Stephen P Schutte, Mieke Producer: 20090206 In: Breast cancer research and treatment vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5619.	Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. [electronic resource] by Fukami, Maki Wada, Yuka Okada, Michiyo Kato, Fumiko Katsumata, Noriyuki Baba, Takashi Morohashi, Ken-ichirou Laporte, Jocelyn Kitagawa, Motoo Ogata, Tsutomu Producer: 20080415 In: The Journal of biological chemistry vol. 283 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5620.	Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1. [electronic resource] by Michiels, Jan Jacques Gadisseur, Alain Vangenegten, Inge Schroyens, Wilfried Berneman, Zwi Producer: 20090706 In: Acta haematologica vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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