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	2941.	Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance. [electronic resource] by Raaijmakers, Marieke I G Widmer, Daniel S Narechania, Apurva Eichhoff, Ossia Freiberger, Sandra N Wenzina, Judith Cheng, Phil F Mihic-Probst, Daniela Desalle, Rob Dummer, Reinhard Levesque, Mitchell P Producer: 20180223 In: Oncotarget vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2942.	NUP214 deficiency causes severe encephalopathy and microcephaly in humans. [electronic resource] by Shamseldin, Hanan E Makhseed, Nawal Ibrahim, Niema Al-Sheddi, Tarfa Alobeid, Eman Abdulwahab, Firdous Alkuraya, Fowzan S Producer: 20190325 In: Human genetics vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2943.	Neutrophilic dermatosis associated with an NFKB2 mutation. [electronic resource] by Okamura, K Uchida, T Hayashi, M Yaguchi, Y Hemmi, A Murata, I Ichikawa, K Koyama, S Onoda, T Sasahara, Y Suzuki, T Producer: 20190909 In: Clinical and experimental dermatology vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2944.	Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation. [electronic resource] by Headrick, Andrew T Rosenfeld, Jill A Yang, Yaping Tunuguntla, Hari Allen, Hugh D Penny, Daniel J Kim, Jeffrey J Landstrom, Andrew P Producer: 20200623 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)
	2945.	None [electronic resource] by Zhao, Tian Goedhart, Caitlin M Sam, Pingdewinde N Sabouny, Rasha Lingrell, Susanne Cornish, Adam J Lamont, Ryan E Bernier, Francois P Sinasac, David Parboosingh, Jillian S Vance, Jean E Claypool, Steven M Innes, A Micheil Shutt, Timothy E Producer: 20200226 In: Life science alliance vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2946.	The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders. [electronic resource] by Jiao, Qingguo Sun, Haiming Zhang, Haoya Wang, Ran Li, Suting Sun, Dan Yang, Xiu-An Jin, Yan Producer: 20200812 In: Clinical genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2947.	A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy. [electronic resource] by Xu, Jing Wang, Lu Liu, Xiangdong Dai, Qiming 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)
	2948.	DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation. [electronic resource] by Guerra, João V S Oliveira-Santos, José Oliveira, Danyllo F Leal, Gabriela F Oliveira, João Ricardo M Costa, Silvia S Krepischi, Ana C V Vianna-Morgante, Angela M Maschietto, Mariana Producer: 20201119 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2949.	Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice. [electronic resource] by McCann, Emily P Fifita, Jennifer A Grima, Natalie Galper, Jasmin Mehta, Prachi Freckleton, Sarah E Zhang, Katharine Y Henden, Lyndal Hogan, Alison L Chan Moi Fat, Sandrine Wu, Sharlynn Sl Jagaraj, Cyril J Berning, Britt A Williams, Kelly Louise Twine, Natalie A Bauer, Denis Piguet, Olivier Hodges, John Kwok, John B J Halliday, Glenda M Kiernan, Matthew C Atkin, Julie Rowe, Dominic B Nicholson, Garth A Walker, Adam K Blair, Ian P Yang, Shu Producer: 20200707 In: Journal of neurology, neurosurgery, and psychiatry vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2950.	Genetic variants in incident SUDEP cases from a community-based prospective cohort with epilepsy. [electronic resource] by Ge, Yan Ding, Ding Zhu, Guoxing Kwan, Patrick Wang, Wenzhi Hong, Zhen Sander, Josemir W Producer: 20200707 In: Journal of neurology, neurosurgery, and psychiatry vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2951.	De novo variants in [electronic resource] by Bina, Roya Matalon, Dena Fregeau, Brieana Tarsitano, Jacqueline Joani Aukrust, Ingvild Houge, Gunnar Bend, Renee Warren, Hannah Stevenson, Roger E Stuurman, Kyra Eva Barkovich, A James Sherr, Elliott H Producer: 20210621 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2952.	Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome. [electronic resource] by Aloui, Chaker Guey, Stéphanie Pipiras, Eva Kossorotoff, Manoelle Guéden, Sophie Corpechot, Michaelle Bessou, Pierre Pedespan, Jean-Michel Husson, Marie Hervé, Dominique Riant, Florence Kraemer, Markus Steffann, Julie Quenez, Olivier Tournier-Lasserve, Elisabeth Producer: 20210611 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2953.	S100A4 mRNA-protein relationship uncovered by measurement noise reduction. [electronic resource] by Athanasiou, Angelos-Theodoros Nussbaumer, Thomas Kummer, Stefan Hofer, Martin Johnston, Iain G Staltner, Moritz Allmer, Daniela M Scott, Milcah C Vogl, Claus Fenger, Joelle M Modiano, Jaime F Walter, Ingrid Steinborn, Ralf Producer: 20210607 In: Journal of molecular medicine (Berlin, Germany) vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2954.	Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough. [electronic resource] by Miura, Shiroh Kosaka, Kengo Shimojo, Tomofumi Matsuura, Eiji Noda, Kazuhito Fujioka, Ryuta Mori, Shin-Ichiro Umehara, Fujio Iwaki, Toru Yamamoto, Ken Saitsu, Hirotomo Shibata, Hiroki Producer: 20210208 In: Journal of human genetics vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2955.	Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a [electronic resource] by Liu, Jinghua Liu, Ying Wang, Liming Zhang, Xiaohan Hao, Peng Li, Xuan Producer: 20210205 In: The Journal of international medical research vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2956.	Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies. [electronic resource] by Ryan, Rebecca Failler, Marion Reilly, Madeline Louise Garfa-Traore, Meriem Delous, Marion Filhol, Emilie Reboul, Thérèse Bole-Feysot, Christine Nitschké, Patrick Baudouin, Véronique Amselem, Serge Escudier, Estelle Legendre, Marie Benmerah, Alexandre Saunier, Sophie Producer: 20190103 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2957.	A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. [electronic resource] by Viel, Alessandra Bruselles, Alessandro Meccia, Ettore Fornasarig, Mara Quaia, Michele Canzonieri, Vincenzo Policicchio, Eleonora Urso, Emanuele Damiano Agostini, Marco Genuardi, Maurizio Lucci-Cordisco, Emanuela Venesio, Tiziana Martayan, Aline Diodoro, Maria Grazia Sanchez-Mete, Lupe Stigliano, Vittoria Mazzei, Filomena Grasso, Francesca Giuliani, Alessandro Baiocchi, Marta Maestro, Roberta Giannini, Giuseppe Tartaglia, Marco Alexandrov, Ludmil B Bignami, Margherita Producer: 20180326 In: EBioMedicine vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2958.	Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model. [electronic resource] by Gurbuz, F Desai, S Diao, F Turkkahraman, D Wranitz, F Wood-Trageser, M Shin, Y-H Kotan, L D Jiang, H Witchel, S Gurtunca, N Yatsenko, S Mysliwec, D Topaloglu, K Rajkovic, A Producer: 20190930 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2959.	A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults. [electronic resource] by Oh, C-M Chun, S Lee, J-E Lee, J S Park, S Gee, H Y Kim, S W Producer: 20180430 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2960.	Absence of driver mutations in persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes. [electronic resource] by Tesson, Bruno Huet, Sarah Grange, Béatrice Jallades, Laurent Baseggio, Lucile Felman, Pascale Traverse-Glehen, Alexandra Magaud, Jean-Pierre Lega, Jean-Christophe Bole-Feysot, Christine Salles, Gilles Callet-Bauchu, Evelyne Sujobert, Pierre Producer: 20180212 In: Blood vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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