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	2441.	Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing. [electronic resource] by Dong, Weilai Baldwin, Clinton Choi, Jungmin Milunsky, Jeff M Zhang, Junhui Bilguvar, Kaya Lifton, Richard P Milunsky, Aubrey Producer: 20200831 In: Clinical genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2442.	Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. [electronic resource] by Esposito, Alessandro Falace, Antonio Wagner, Matias Gal, Moran Mei, Davide Conti, Valerio Pisano, Tiziana Aprile, Davide Cerullo, Maria Sabina De Fusco, Antonio Giovedì, Silvia Seibt, Annette Magen, Daniella Polster, Tilman Eran, Ayelet Stenton, Sarah L Fiorillo, Chiara Ravid, Sarit Mayatepek, Ertan Hafner, Hava Wortmann, Saskia Levanon, Erez Y Marini, Carla Mandel, Hanna Benfenati, Fabio Distelmaier, Felix Fassio, Anna Guerrini, Renzo Producer: 20200521 In: Brain : a journal of neurology vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2443.	Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes. [electronic resource] by Jackson, Adam Ward, Heather Bromley, Rebecca Louise Deshpande, Charulata Vasudevan, Pradeep Scurr, Ingrid Dean, John Shannon, Nora Berg, Jonathon Holder, Susan Baralle, Diana Clayton-Smith, Jill Producer: 20200727 In: Archives of disease in childhood vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2444.	Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden. [electronic resource] by Silva, Susana L Fonseca, Mariana Pereira, Marcelo L M Silva, Sara P Barbosa, Rita R Serra-Caetano, Ana Blanco, Elena Rosmaninho, Pedro Pérez-Andrés, Martin Sousa, Ana Berta Raposo, Alexandre A S F Gama-Carvalho, Margarida Victorino, Rui M M Hammarstrom, Lennart Sousa, Ana E Producer: 20201109 In: Frontiers in immunology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2445.	Application of pharmacogenomics and bioinformatics to exemplify the utility of human ex vivo organoculture models in the field of precision medicine. [electronic resource] by Cowan, Karen Macluskie, Graeme Finch, Michael Palmer, Colin N A Hair, Jane Bylesjo, Max Lynagh, Sarah Brankin, Pamela McNeil, Marian Low, Carolyn Mallinson, David Gourlay, Elaine M Child, Hannah Cheyne, Linda Bunton, David C Producer: 20200325 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2446.	Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation. [electronic resource] by Calandra, Cristian R Buda, Guadalupe Vishnopolska, Sebastian A Oliveri, Jaen Olivieri, Federico A Pérez Millán, María I Biagioli, German Miquelini, Luis A Pellene, Alejandro L Marti, Marcelo A Producer: 20210329 In: Parkinsonism & related disorders vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2447.	Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. [electronic resource] by Ratnapriya, Rinki Acar, İlhan E Geerlings, Maartje J Branham, Kari Kwong, Alan Saksens, Nicole T M Pauper, Marc Corominas, Jordi Kwicklis, Madeline Zipprer, David Starostik, Margaret R Othman, Mohammad Yashar, Beverly Abecasis, Goncalo R Chew, Emily Y Ferrington, Deborah A Hoyng, Carel B Swaroop, Anand den Hollander, Anneke I Producer: 20210823 In: Human molecular genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2448.	De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. [electronic resource] by Nakashima, Mitsuko Kato, Mitsuhiro Matsukura, Masaru Kira, Ryutaro Ngu, Lock-Hock Lichtenbelt, Klaske D van Gassen, Koen L I Mitsuhashi, Satomi Saitsu, Hirotomo Matsumoto, Naomichi 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)
	2449.	Molecular Dissection of Complete Response to Receptor Tyrosine Kinase Inhibition in Type II Papillary Renal Cell Carcinoma. [electronic resource] by Annala, Matti Nappi, Lucia Azad, Arun A Mo, Fan Fazli, Ladan Chi, Kim N Wyatt, Alexander W Producer: 20180604 In: Clinical genitourinary cancer vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2450.	A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy. [electronic resource] by Rossi, Daniela Palmio, Johanna Evilä, Anni Galli, Lucia Barone, Virginia Caldwell, Tracy A Policke, Rachel A Aldkheil, Esraa Berndsen, Christopher E Wright, Nathan T Malfatti, Edoardo Brochier, Guy Pierantozzi, Enrico Jordanova, Albena Guergueltcheva, Velina Romero, Norma Beatriz Hackman, Peter Eymard, Bruno Udd, Bjarne Sorrentino, Vincenzo Producer: 20171120 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2451.	Rare Cell Detection by Single-Cell RNA Sequencing as Guided by Single-Molecule RNA FISH. [electronic resource] by Torre, Eduardo Dueck, Hannah Shaffer, Sydney Gospocic, Janko Gupte, Rohit Bonasio, Roberto Kim, Junhyong Murray, John Raj, Arjun Producer: 20190731 In: Cell systems vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2452.	Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. [electronic resource] by Yilmaz, Saliha Uludağ Alkaya, Dilek Kasapçopur, Özgür Barut, Kenan Akdemir, Ekin S Celen, Cemre Youngblood, Mark W Yasuno, Katsuhito Bilguvar, Kaya Günel, Murat Tüysüz, Beyhan Producer: 20180924 In: Molecular genetics & genomic medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2453.	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. [electronic resource] by Bone, William P Washington, Nicole L Buske, Orion J Adams, David R Davis, Joie Draper, David Flynn, Elise D Girdea, Marta Godfrey, Rena Golas, Gretchen Groden, Catherine Jacobsen, Julius Köhler, Sebastian Lee, Elizabeth M J Links, Amanda E Markello, Thomas C Mungall, Christopher J Nehrebecky, Michele Robinson, Peter N Sincan, Murat Soldatos, Ariane G Tifft, Cynthia J Toro, Camilo Trang, Heather Valkanas, Elise Vasilevsky, Nicole Wahl, Colleen Wolfe, Lynne A Boerkoel, Cornelius F Brudno, Michael Haendel, Melissa A Gahl, William A Smedley, Damian Producer: 20171211 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2454.	Genomic characterization of tobacco/nut chewing HPV-negative early stage tongue tumors identify MMP10 asa candidate to predict metastases. [electronic resource] by Upadhyay, Pawan Gardi, Nilesh Desai, Sanket Chandrani, Pratik Joshi, Asim Dharavath, Bhaskar Arora, Priyanca Bal, Munita Nair, Sudhir Dutt, Amit Producer: 20180614 In: Oral oncology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2455.	Mutations in RELT cause autosomal recessive amelogenesis imperfecta. [electronic resource] by Kim, Jung-Wook Zhang, Hong Seymen, Figen Koruyucu, Mine Hu, Yuanyuan Kang, Jenny Kim, Youn J Ikeda, Atsushi Kasimoglu, Yelda Bayram, Merve Zhang, Chuhua Kawasaki, Kazuhiko Bartlett, John D Saunders, Thomas L Simmer, James P Hu, Jan C-C Producer: 20200803 In: Clinical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2456.	Whole exome sequencing reveals novel [electronic resource] by Xiao, Xiaoqiang Cao, Yingjie Chen, Shaowan Chen, Min Mai, Xiaoting Zheng, Yuqian Zhuang, Xi Ng, Tsz Kin Chen, Haoyu Producer: 20190614 In: Molecular vision vol. 25 Availability: No items available. Save to lists Add to cart (remove)
	2457.	Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family. [electronic resource] by Lahbib, Saida Trabelsi, Mediha Dallali, Hamza Sakka, Rania Bourourou, Rym Kefi, Rym Mrad, Ridha Abdelhak, Sonia Gaddour, Naoufel Producer: 20200214 In: Molecular biology reports vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2458.	Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. [electronic resource] by Ullah, Irfan Kakar, Naseebullah Schrauwen, Isabelle Hussain, Shabir Chakchouk, Imen Liaqat, Khurram Acharya, Anushree Wasif, Naveed Santos-Cortez, Regie Lyn P Khan, Saadullah Aziz, Abdul Lee, Kwanghyuk Couthouis, Julien Horn, Denise Kragesteen, Bjørt K Spielmann, Malte Thiele, Holger Nickerson, Deborah A Bamshad, Michael J Gitler, Aaron D Ahmad, Jamil Ansar, Muhammad Borck, Guntram Ahmad, Wasim Leal, Suzanne M Producer: 20190624 In: Human genetics vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2459.	Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. [electronic resource] by Van Esch, Hilde Colnaghi, Rita Freson, Kathleen Starokadomskyy, Petro Zankl, Andreas Backx, Liesbeth Abramowicz, Iga Outwin, Emily Rohena, Luis Faulkner, Claire Leong, Gary M Newbury-Ecob, Ruth A Challis, Rachel C Õunap, Katrin Jaeken, Jacques Seuntjens, Eve Devriendt, Koen Burstein, Ezra Low, Karen J O'Driscoll, Mark Producer: 20200206 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2460.	LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. [electronic resource] by Stowe, Robert C Sun, Qin Elsea, Sarah H Scaglia, Fernando Producer: 20190520 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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