Your search returned 4080 results.

Results
	2421.	Exome sequencing identifies the first genetic determinants of sirenomelia in humans. [electronic resource] by Lecoquierre, François Brehin, Anne-Claire Coutant, Sophie Coursimault, Juliette Bazin, Anne Finck, Wilfrid Benoist, Guillaume Begorre, Marianne Beneteau, Claire Cailliez, Daniel Chenal, Pierre De Jong, Mirjam Degré, Sophie Devisme, Louise Francannet, Christine Gérard, Bénédicte Jeanne, Corinne Joubert, Madeleine Journel, Hubert Laurichesse Delmas, Hélène Layet, Valérie Liquier, Alain Mangione, Raphaele Patrier, Sophie Pelluard, Fanny Petit, Florence Tillouche, Nadia van Ravenswaaij-Arts, Conny Frebourg, Thierry Saugier-Veber, Pascale Gruchy, Nicolas Nicolas, Gaël Gerard, Marion Producer: 20210721 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2422.	Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder. [electronic resource] by Brunet, Theresa Radivojkov-Blagojevic, Milena Lichtner, Peter Kraus, Verena Meitinger, Thomas Wagner, Matias Producer: 20210412 In: Annals of clinical and translational neurology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2423.	Ellis-van Creveld syndrome: Report of a case and recurrent variant. [electronic resource] by Eftekhariyazdi, Mitra Meshkani, Mahshid Moslem, Alireza Hakimi, Pooria Safari, Shamsi Khaligh, Ali Zare-Abdollahi, Davood Producer: 20210715 In: The journal of gene medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2424.	Transcriptome sequencing analysis of porcine MDM response to FSL-1 stimulation. [electronic resource] by Zhou, Lisheng Wang, Li Zhao, Weimin Ren, Shouwen Tu, Feng Fu, Yanfeng Li, Bixia Wang, Xuemin Fang, Xiaomin Producer: 20201015 In: Microbial pathogenesis vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2425.	Essential gene expression pattern of head and neck squamous cell carcinoma revealed by tumor-specific expression rule based on single-cell RNA sequencing. [electronic resource] by Yu, Xiangtian Wang, Zhenjia Zeng, Tao Producer: 20210105 In: Biochimica et biophysica acta. Molecular basis of disease vol. 1866 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2426.	Genomic perturbations reveal distinct regulatory networks in intrahepatic cholangiocarcinoma. [electronic resource] by Nepal, Chirag O'Rourke, Colm J Oliveira, Douglas V N P Taranta, Andrzej Shema, Steven Gautam, Prson Calderaro, Julien Barbour, Andrew Raggi, Chiara Wennerberg, Krister Wang, Xin W Lautem, Anja Roberts, Lewis R Andersen, Jesper B Producer: 20190227 In: Hepatology (Baltimore, Md.) vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2427.	Targeted versus untargeted omics - the CAFSA story. [electronic resource] by Del Mar Amador, Maria Colsch, Benoit Lamari, Foudil Jardel, Claude Ichou, Farid Rastetter, Agnès Sedel, Frédéric Jourdan, Fabien Frainay, Clément Wevers, Ronald A Roze, Emmanuel Depienne, Christel Junot, Christophe Mochel, Fanny Producer: 20191129 In: Journal of inherited metabolic disease vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2428.	Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. [electronic resource] by Ghazani, Arezou A Oliver, Nelly M St Pierre, Joseph P Garofalo, Andrea Rainville, Irene R Hiller, Elaine Treacy, Daniel J Rojas-Rudilla, Vanesa Wood, Sam Bair, Elizabeth Parello, Michael Huang, Franklin Giannakis, Marios Wilson, Frederick H Stover, Elizabeth H Corsello, Steven M Nguyen, Tom Rana, Huma Q Church, Alanna J Lowenstein, Carol Cibulskis, Carrie Amin-Mansour, Ali Heng, Jennifer Brais, Lauren Santos, Abigail Bauer, Patrick Waldron, Amanda Lo, Peter Gorman, Megan Lydon, Christine A Welch, Marisa McNamara, Philip Gabriel, Stacey Sholl, Lynette M Lindeman, Neal I Garber, Judy E Joffe, Steven Van Allen, Eliezer M Gray, Stacy W Ja Nne, Pasi A Garraway, Levi A Wagle, Nikhil Producer: 20180412 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2429.	Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis. [electronic resource] by Maver, Ales Lavtar, Polona Ristić, Smiljana Stopinšek, Sanja Simčič, Saša Hočevar, Keli Sepčić, Juraj Drulović, Jelena Pekmezović, Tatjana Novaković, Ivana Alenka, Hodžić Rudolf, Gorazd Šega, Saša Starčević-Čizmarević, Nada Palandačić, Anja Zamolo, Gordana Kapović, Miljenko Likar, Tina Peterlin, Borut Producer: 20190621 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2430.	Exome Sequencing Provides Evidence of Polygenic Adaptation to a Fat-Rich Animal Diet in Indigenous Siberian Populations. [electronic resource] by Hsieh, PingHsun Hallmark, Brian Watkins, Joseph Karafet, Tatiana M Osipova, Ludmila P Gutenkunst, Ryan N Hammer, Michael F Producer: 20180321 In: Molecular biology and evolution vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2431.	Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3. [electronic resource] by Umair, Muhammad Alhaddad, Bader Rafique, Afzal Jan, Abid Haack, Tobias B Graf, Elisabeth Ullah, Asmat Ahmad, Farooq Strom, Tim M Meitinger, Thomas Ahmad, Wasim Producer: 20180611 In: Pediatric research vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2432.	Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). [electronic resource] by Wambach, Jennifer A Stettner, Georg M Haack, Tobias B Writzl, Karin Škofljanec, Andreja Maver, Aleš Munell, Francina Ossowski, Stephan Bosio, Mattia Wegner, Daniel J Shinawi, Marwan Baldridge, Dustin Alhaddad, Bader Strom, Tim M Grange, Dorothy K Wilichowski, Ekkehard Troxell, Robin Collins, James Warner, Barbara B Schmidt, Robert E Pestronk, Alan Cole, F Sessions Steinfeld, Robert Producer: 20180530 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2433.	PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice. [electronic resource] by Christou-Kent, Marie Kherraf, Zine-Eddine Amiri-Yekta, Amir Le Blévec, Emilie Karaouzène, Thomas Conne, Béatrice Escoffier, Jessica Assou, Said Guttin, Audrey Lambert, Emeline Martinez, Guillaume Boguenet, Magalie Fourati Ben Mustapha, Selima Cedrin Durnerin, Isabelle Halouani, Lazhar Marrakchi, Ouafi Makni, Mounir Latrous, Habib Kharouf, Mahmoud Coutton, Charles Thierry-Mieg, Nicolas Nef, Serge Bottari, Serge P Zouari, Raoudha Issartel, Jean Paul Ray, Pierre F Arnoult, Christophe Producer: 20190328 In: EMBO molecular medicine vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2434.	Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss. [electronic resource] by Mahfood, Mona Kamal Eddine Ahmad Mohamed, Walaa Al Mutery, Abdullah Tlili, Abdelaziz Producer: 20190521 In: Genetic testing and molecular biomarkers vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2435.	Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. [electronic resource] by Sun, Miao Johnson, Amy Knight Nelakuditi, Viswateja Guidugli, Lucia Fischer, David Arndt, Kelly Ma, Lan Sandford, Erin Shakkottai, Vikram Boycott, Kym Warman-Chardon, Jodi Li, Zejuan Del Gaudio, Daniela Burmeister, Margit Gomez, Christopher M Waggoner, Darrel J Das, Soma Producer: 20190312 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2436.	Desmoplastic Infantile Ganglioglioma/Astrocytoma (DIG/DIA) Are Distinct Entities with Frequent BRAFV600 Mutations. [electronic resource] by Wang, Anthony C Jones, David T W Abecassis, Isaac Joshua Cole, Bonnie L Leary, Sarah E S Lockwood, Christina M Chavez, Lukas Capper, David Korshunov, Andrey Fallah, Aria Wang, Shelly Ene, Chibawanye Olson, James M Geyer, J Russell Holland, Eric C Lee, Amy Ellenbogen, Richard G Ojemann, Jeffrey G Producer: 20190730 In: Molecular cancer research : MCR vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2437.	Efficient identification of somatic mutations in acute myeloid leukaemia using whole exome sequencing of fingernail derived DNA as germline control. [electronic resource] by Kakadia, Purvi M Van de Water, Neil Browett, Peter J Bohlander, Stefan K Producer: 20191111 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2438.	Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. [electronic resource] by Schrauwen, Isabelle Valgaeren, Hanne Tomas-Roca, Laura Sommen, Manou Altunoglu, Umut Wesdorp, Mieke Beyens, Matthias Fransen, Erik Nasir, Abdul Vandeweyer, Geert Schepers, Anne Rahmoun, Malika van Beusekom, Ellen Huentelman, Matt J Offeciers, Erwin Dhooghe, Ingeborg Huber, Alex Van de Heyning, Paul Zanetti, Diego De Leenheer, Els M R Gilissen, Christian Hoischen, Alexander Cremers, Cor W Verbist, Berit de Brouwer, Arjan P M Padberg, George W Pennings, Ronald Kayserili, Hülya Kremer, Hannie Van Camp, Guy van Bokhoven, Hans Producer: 20200213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2439.	FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy. [electronic resource] by Paprocka, Justyna Jezela-Stanek, Aleksandra Koppolu, Agniesz Rydzanicz, Małgorzata Kosińska, Joanna Stawiński, Piotr Płoski, Rafał Producer: 20200817 In: Clinical genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2440.	Whole-exome sequencing indicates [electronic resource] by de Carvalho-Siqueira, Gabriela Queila Ananina, Galina de Souza, Bruno Batista Borges, Murilo Guimarães Ito, Mirta Tomie da Silva-Costa, Sueli Matilde de Farias Domingos, Igor Falcão, Diego Arruda Lopes-Cendes, Iscia Bezerra, Marcos André Cavalcanti da Silva Araújo, Aderson Lucena-Araújo, Antônio Roberto de Souza Gonçalves, Marilda Saad, Sara Teresinha Olalla Costa, Fernando Ferreira de Melo, Mônica Barbosa Producer: 20200610 In: Experimental biology and medicine (Maywood, N.J.) vol. 244 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 4080 results.