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	2921.	Clinical and genetic landscape of treatment naive cervical cancer: Alterations in PIK3CA and in epigenetic modulators associated with sub-optimal outcome. [electronic resource] by Scholl, Suzy Popovic, Marina de la Rochefordiere, Anne Girard, Elodie Dureau, Sylvain Mandic, Aljosa Koprivsek, Katarina Samet, Nina Craina, Marius Margan, Madalin Samuels, Sanne Zijlmans, Henry Kenter, Gemma Hillemanns, Peter Dema, Sorin Dema, Alis Malenkovic, Goran Djuran, Branislav Floquet, Anne Garbay, Delphine Guyon, Frédéric Colombo, Pierre Emmanuel Fabbro, Michel Kerr, Christine Ngo, Charlotte Lecuru, Fabrice Campo, Eleonor Rivin Del Coutant, Charles Marchal, Frédéric Mesgouez-Nebout, Nathalie Fourchotte, Virginie Feron, Jean Guillaume Morice, Philippe Deutsch, Eric Wimberger, Pauline Classe, Jean-Marc Gleeson, Noreen von der Leyen, Heiko Minsat, Mathieu Dubot, Coraline Gestraud, Pierre Kereszt, Attila Nagy, Istvan Balint, Balazs Berns, Els Jordanova, Ekaterina Saint-Jorre, Nicolas de Savignoni, Alexia Servant, Nicolas Hupe, Philippe de Koning, Leanne Fumoleau, Pierre Rouzier, Roman Kamal, Maud Producer: 20191125 In: EBioMedicine vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2922.	A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy. [electronic resource] by Guo, Jun Li, Zheng Hao, Chanjuan Guo, Ruolan Hu, Xuyun Qian, Suyun Zeng, Jiansheng Gao, Hengmiao Li, Wei Producer: 20200629 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)
	2923.	Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis. [electronic resource] by Calender, Alain Lim, Clarice X Weichhart, Thomas Buisson, Adrien Besnard, Valérie Rollat-Farnier, Pierre Antoine Bardel, Claire Roy, Pascal Cottin, Vincent Devouassoux, Gilles Finat, Amélie Pinson, Stéphane Lebecque, Serge Nunes, Hilario Israel-Biet, Dominique Bentaher, Abderazzaq Valeyre, Dominique Pacheco, Yves Producer: 20200929 In: The European respiratory journal vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2924.	TJP2 hepatobiliary disorders: Novel variants and clinical diversity. [electronic resource] by Zhang, Jing Liu, Lang-Li Gong, Jing-Yu Hao, Chen-Zhi Qiu, Yi-Ling Lu, Yi Feng, Jia-Yan Li, Jia-Qi Li, Zhong-Die Wang, Meng-Xuan Xing, Qing-He Knisely, A S Wang, Jian-She Producer: 20210722 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2925.	Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. [electronic resource] by Bogliolo, Massimo Pujol, Roser Aza-Carmona, Miriam Muñoz-Subirana, Núria Rodriguez-Santiago, Benjamin Casado, José Antonio Rio, Paula Bauser, Christopher Reina-Castillón, Judith Lopez-Sanchez, Marcos Gonzalez-Quereda, Lidia Gallano, Pia Catalá, Albert Ruiz-Llobet, Ana Badell, Isabel Diaz-Heredia, Cristina Hladun, Raquel Senent, Leonort Argiles, Bienvenida Bergua Burgues, Juan Miguel Bañez, Fatima Arrizabalaga, Beatriz López Almaraz, Ricardo Lopez, Monica Figuera, Ángela Molinés, Antonio Pérez de Soto, Inmaculada Hernando, Inés Muñoz, Juan Antonio Del Rosario Marin, Maria Balmaña, Judith Stjepanovic, Neda Carrasco, Estela Cuesta, Isabel Cosuelo, José Miguel Regueiro, Alexandra Moraleda Jimenez, José Galera-Miñarro, Ana Maria Rosiñol, Laura Carrió, Anna Beléndez-Bieler, Cristina Escudero Soto, Antonio Cela, Elena de la Mata, Gregorio Fernández-Delgado, Rafael Garcia-Pardos, Maria Carmen Sáez-Villaverde, Raquel Barragaño, Marta Portugal, Raquel Lendinez, Francisco Hernadez, Ines Vagace, José Manue Tapia, Maria Nieto, José Garcia, Marta Gonzalez, Macarena Vicho, Cristina Galvez, Eva Valiente, Alberto Antelo, Maria Luisa Ancliff, Phil Garcia, Francisco Dopazo, Joaquin Sevilla, Julian Paprotka, Tobias Pérez-Jurado, Luis Alberto Bueren, Juan Surralles, Jordi Producer: 20210204 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)
	2926.	Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report. [electronic resource] by Liu, Hao Miao, Jing-Kun Yu, Chao-Wen Wan, Ke-Xing Zhang, Juan Yuan, Zhao-Jian Yang, Jing Wang, Dong-Juan Zeng, Yan Zou, Lin Producer: 20201106 In: BMC pediatrics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2927.	Temporal genomic contrasts reveal rapid evolutionary responses in an alpine mammal during recent climate change. [electronic resource] by Bi, Ke Linderoth, Tyler Singhal, Sonal Vanderpool, Dan Patton, James L Nielsen, Rasmus Moritz, Craig Good, Jeffrey M Producer: 20191202 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2928.	Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. [electronic resource] by Lefebvre, Mathilde Dieux-Coeslier, Anne Baujat, Geneviève Schaefer, Elise Judith, Saint-Onge Bazin, Anne Pinson, Lucile Attie-Bitach, Tania Baumann, Clarisse Fradin, Melanie Pierquin, Genevieve Julia, Sophie Quélin, Chloé Doray, Bérénice Berg, Sylvie Vincent-Delorme, Catherine Lambert, Laetitia Bachmann, Nadine Lacombe, Didier Isidor, Bertrand Laurent, Nicole Joelle, Roume Blanchet, Patricia Odent, Sylvie Kervran, Dominique Leporrier, Nathalie Abel, Carine Segers, Karine Guiliano, Fabienne Ginglinger-Fabre, Emmanuelle Selicorni, Angelo Goldenberg, Alice El Chehadeh, Salima Francannet, Christine Demeer, Benedicte Duffourd, Yannis Thauvin-Robinet, Christel Verloes, Alain Cormier-Daire, Valerie Riviere, Jean Baptiste Faivre, Laurence Thevenon, Julien Producer: 20190916 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2929.	Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series. [electronic resource] by Shanks, Garrett W Tester, David J Ackerman, Jaeger P Simpson, Michael A Behr, Elijah R White, Steven M Ackerman, Michael J Producer: 20190812 In: Circulation vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2930.	Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis. [electronic resource] by Wang, Rongrong Yang, Shuanghao Xu, Ming Huang, Jia Liu, Hongyan Gu, Weiyue Zhang, Xue Producer: 20181126 In: Science China. Life sciences vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2931.	Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities. [electronic resource] by Xiao, Bing Qiu, Wenjuan Ji, Xing Liu, Xiaoqing Huang, Zhuo Liu, Huili Fan, Yanjie Xu, Yan Liu, Yu Yie, Hui Wei, Wei Yan, Hui Gong, Zhuwen Shen, Lixiao Sun, Yu Producer: 20180621 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)
	2932.	De novo variants in [electronic resource] by Tanaka, Akemi J Cho, Megan T Willaert, Rebecca Retterer, Kyle Zarate, Yuri A Bosanko, Katie Stefans, Vikki Oishi, Kimihiko Williamson, Amy Wilson, Golder N Basinger, Alice Barbaro-Dieber, Tina Ortega, Lucia Sorrentino, Susanna Gabriel, Melissa K Anderson, Ilse J Sacoto, Maria J Guillen Schnur, Rhonda E Chung, Wendy K Producer: 20180101 In: Cold Spring Harbor molecular case studies vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2933.	Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. [electronic resource] by Fu, F Li, R Li, Y Nie, Z-Q Lei, T Wang, D Yang, X Han, J Pan, M Zhen, L Ou, Y Li, J Li, F-T Jing, X Li, D Liao, C Producer: 20180924 In: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2934.	MFSD8 gene mutations; evidence for phenotypic heterogeneity. [electronic resource] by Zare-Abdollahi, Davood Bushehri, Ata Alavi, Afagh Dehghani, Alireza Mousavi-Mirkala, Mohammadreza Effati, Jalil Miratashi, Seyed Ali Mohammad Dehani, Mohammad Jamali, Payman Khorram Khorshid, Hamid Reza Producer: 20200313 In: Ophthalmic genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2935.	Identification of prognostic molecular biomarkers in 157 HPV-positive and HPV-negative squamous cell carcinomas of the oropharynx. [electronic resource] by Dogan, Snjezana Xu, Bin Middha, Sumit Vanderbilt, Chad M Bowman, Anita S Migliacci, Jocelyn Morris, Luc G T Seshan, Venkatraman E Ganly, Ian Producer: 20200131 In: International journal of cancer vol. 145 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2936.	Cancer Neoepitopes for Immunotherapy: Discordance Between Tumor-Infiltrating T Cell Reactivity and Tumor MHC Peptidome Display. [electronic resource] by Wickström, Stina L Lövgren, Tanja Volkmar, Michael Reinhold, Bruce Duke-Cohan, Jonathan S Hartmann, Laura Rebmann, Janina Mueller, Anja Melief, Jeroen Maas, Roeltje Ligtenberg, Maarten Hansson, Johan Offringa, Rienk Seliger, Barbara Poschke, Isabel Reinherz, Ellis L Kiessling, Rolf Producer: 20201028 In: Frontiers in immunology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2937.	A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. [electronic resource] by Chatzispyrou, Iliana A Alders, Marielle Guerrero-Castillo, Sergio Zapata Perez, Ruben Haagmans, Martin A Mouchiroud, Laurent Koster, Janet Ofman, Rob Baas, Frank Waterham, Hans R Spelbrink, Johannes N Auwerx, Johan Mannens, Marcel M Houtkooper, Riekelt H Plomp, Astrid S Producer: 20171211 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2938.	Ovary as a Biomarker of Health and Longevity: Insights from Genetics. [electronic resource] by Rajkovic, Aleksandar Pangas, Stephanie Producer: 20180827 In: Seminars in reproductive medicine vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2939.	Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. [electronic resource] by Lo, Mindy S Towne, Meghan VanNoy, Grace E Brownstein, Catherine A Lane, Andrew A Chatila, Talal A Agrawal, Pankaj B Producer: 20190408 In: Journal of autoimmunity vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2940.	Homozygous mutation in [electronic resource] by Yıldız Bölükbaşı, Esra Mumtaz, Sara Afzal, Muhammad Woehlbier, Ute Malik, Sajid Tolun, Aslıhan Producer: 20190920 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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