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	3781.	Erythropoiesis defect observed in STAT3 GOF patients with severe anemia. [electronic resource] by Mauracher, Andrea A Eekels, Julia J M Woytschak, Janine van Drogen, Audrey Bosch, Alessandra Prader, Seraina Felber, Matthias Heeg, Maximillian Opitz, Lennart Trück, Johannes Schroeder, Silke Adank, Eva Klocperk, Adam Haralambieva, Eugenia Zimmermann, Dieter Tantou, Sofia Kotsonis, Kosmas Stergiou, Aikaterini Kanariou, Maria G Ehl, Stephan Boyman, Onur Sediva, Anna Renella, Raffaele Schmugge, Markus Vavassori, Stefano Pachlopnik Schmid, Jana Producer: 20210125 In: The Journal of allergy and clinical immunology vol. 145 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3782.	Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders. [electronic resource] by Carey, Abigail S Schacht, John P Umandap, Christine Fasel, David Weng, Chunhua Cappell, Joshua Chung, Wendy K Kernie, Steven G Producer: 20210928 In: Pediatric research vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3783.	Single-cell RNA-seq enables comprehensive tumour and immune cell profiling in primary breast cancer. [electronic resource] by Chung, Woosung Eum, Hye Hyeon Lee, Hae-Ock Lee, Kyung-Min Lee, Han-Byoel Kim, Kyu-Tae Ryu, Han Suk Kim, Sangmin Lee, Jeong Eon Park, Yeon Hee Kan, Zhengyan Han, Wonshik Park, Woong-Yang Producer: 20181211 In: Nature communications vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3784.	Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China. [electronic resource] by Fang, You-Hong Luo, You-You Yu, Jin-Dan Lou, Jin-Gan Chen, Jie Producer: 20181008 In: World journal of gastroenterology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3785.	NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. [electronic resource] by Baetens, Dorien Stoop, Hans Peelman, Frank Todeschini, Anne-Laure Rosseel, Toon Coppieters, Frauke Veitia, Reiner A Looijenga, Leendert H J De Baere, Elfride Cools, Martine Producer: 20180116 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)
	3786.	Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population. [electronic resource] by Cai, Yi Patterson, Karynne E Reinier, Frederic Keesecker, Sarah E Blue, Elizabeth Bamshad, Michael Haddad, Joseph Producer: 20180522 In: Birth defects research vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3787.	Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia. [electronic resource] by Cai, Xiaodong Chen, Xin Wu, Song Liu, Wenlan Zhang, Xiejun Zhang, Doudou He, Sijie Wang, Bo Zhang, Mali Zhang, Yuan Li, Zongyang Luo, Kun Cai, Zhiming Li, Weiping Producer: 20180327 In: Scientific reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3788.	Genetic, Epigenetic, and Immunologic Profiling of MMR-Deficient Relapsed Glioblastoma. [electronic resource] by Indraccolo, Stefano Lombardi, Giuseppe Fassan, Matteo Pasqualini, Lorenza Giunco, Silvia Marcato, Raffaella Gasparini, Alessandra Candiotto, Cinzia Nalio, Silvia Fiduccia, Pasquale Fanelli, Giuseppe Nicolò Pambuku, Ardi Della Puppa, Alessandro D'Avella, Domenico Bonaldi, Laura Gardiman, Marina Paola Bertorelle, Roberta De Rossi, Anita Zagonel, Vittorina Producer: 20200527 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3789.	Next-generation whole exome sequencing of glioblastoma with a primitive neuronal component. [electronic resource] by Xu, Guiyan Zheng, Hongwu Li, Jian Yi Producer: 20191112 In: Brain tumor pathology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3790.	Novel WEE2 gene variants identified in patients with fertilization failure and female infertility. [electronic resource] by Zhao, Shuai Chen, Tailai Yu, Mengru Bian, Yuehong Cao, Yongzhi Ning, Yunna Su, Shizhen Zhang, Jiangtao Zhao, Shigang Producer: 20190715 In: Fertility and sterility vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3791.	Identification of new Wilms tumour predisposition genes: an exome sequencing study. [electronic resource] by Mahamdallie, Shazia Yost, Shawn Poyastro-Pearson, Emma Holt, Esty Zachariou, Anna Seal, Sheila Elliott, Anna Clarke, Matthew Warren-Perry, Margaret Hanks, Sandra Anderson, John Bomken, Simon Cole, Trevor Farah, Roula Furtwaengler, Rhoikos Glaser, Adam Grundy, Richard Hayden, James Lowis, Steve Millot, Frédéric Nicholson, James Ronghe, Milind Skeen, Jane Williams, Denise Yeomanson, Daniel Ruark, Elise Rahman, Nazneen Producer: 20200518 In: The Lancet. Child & adolescent health vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3792.	Identification of a neoantigen epitope in a melanoma patient with good response to anti-PD-1 antibody therapy. [electronic resource] by Nonomura, Chizu Otsuka, Masaki Kondou, Ryota Iizuka, Akira Miyata, Haruo Ashizawa, Tadashi Sakura, Naoki Yoshikawa, Shusuke Kiyohara, Yoshio Ohshima, Keiichi Urakami, Kenichi Nagashima, Takeshi Ohnami, Sumiko Kusuhara, Masatoshi Mitsuya, Koichi Hayashi, Nakamasa Nakasu, Yoko Mochizuki, Tohru Yamaguchi, Ken Akiyama, Yasuto Producer: 20200127 In: Immunology letters vol. 208 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3793.	Novel mutations identified in patients with tooth agenesis by whole-exome sequencing. [electronic resource] by Zhao, Kai Lian, Meifei Zou, Duohong Huang, Wei Zhou, Wenjie Shen, Yihan Wang, Feng Wu, Yiqun Producer: 20190701 In: Oral diseases vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3794.	Rare coding variants in genes encoding GABA [electronic resource] by May, Patrick Girard, Simon Harrer, Merle Bobbili, Dheeraj R Schubert, Julian Wolking, Stefan Becker, Felicitas Lachance-Touchette, Pamela Meloche, Caroline Gravel, Micheline Niturad, Cristina E Knaus, Julia De Kovel, Carolien Toliat, Mohamad Polvi, Anne Iacomino, Michele Guerrero-López, Rosa Baulac, Stéphanie Marini, Carla Thiele, Holger Altmüller, Janine Jabbari, Kamel Ruppert, Ann-Kathrin Jurkowski, Wiktor Lal, Dennis Rusconi, Raffaella Cestèle, Sandrine Terragni, Benedetta Coombs, Ian D Reid, Christopher A Striano, Pasquale Caglayan, Hande Siren, Auli Everett, Kate Møller, Rikke S Hjalgrim, Helle Muhle, Hiltrud Helbig, Ingo Kunz, Wolfram S Weber, Yvonne G Weckhuysen, Sarah Jonghe, Peter De Sisodiya, Sanjay M Nabbout, Rima Franceschetti, Silvana Coppola, Antonietta Vari, Maria S Kasteleijn-Nolst Trenité, Dorothée Baykan, Betul Ozbek, Ugur Bebek, Nerses Klein, Karl M Rosenow, Felix Nguyen, Dang K Dubeau, François Carmant, Lionel Lortie, Anne Desbiens, Richard Clément, Jean-François Cieuta-Walti, Cécile Sills, Graeme J Auce, Pauls Francis, Ben Johnson, Michael R Marson, Anthony G Berghuis, Bianca Sander, Josemir W Avbersek, Andreja McCormack, Mark Cavalleri, Gianpiero L Delanty, Norman Depondt, Chantal Krenn, Martin Zimprich, Fritz Peter, Sarah Nikanorova, Marina Kraaij, Robert van Rooij, Jeroen Balling, Rudi Ikram, M Arfan Uitterlinden, André G Avanzini, Giuliano Schorge, Stephanie Petrou, Steven Mantegazza, Massimo Sander, Thomas LeGuern, Eric Serratosa, Jose M Koeleman, Bobby P C Palotie, Aarno Lehesjoki, Anna-Elina Nothnagel, Michael Nürnberg, Peter Maljevic, Snezana Zara, Federico Cossette, Patrick Krause, Roland Lerche, Holger Producer: 20190412 In: The Lancet. Neurology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3795.	IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations. [electronic resource] by Yang, Lin Xu, Dan-Dan Sun, Cheng-Jun Wu, Jing Wei, Hai-Yan Liu, Yu Zhang, Miao-Ying Luo, Fei-Hong Producer: 20190910 In: The Journal of clinical endocrinology and metabolism vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3796.	Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. [electronic resource] by Guo, Hui Bettella, Elisa Marcogliese, Paul C Zhao, Rongjuan Andrews, Jonathan C Nowakowski, Tomasz J Gillentine, Madelyn A Hoekzema, Kendra Wang, Tianyun Wu, Huidan Jangam, Sharayu Liu, Cenying Ni, Hailun Willemsen, Marjolein H van Bon, Bregje W Rinne, Tuula Stevens, Servi J C Kleefstra, Tjitske Brunner, Han G Yntema, Helger G Long, Min Zhao, Wenjing Hu, Zhengmao Colson, Cindy Richard, Nicolas Schwartz, Charles E Romano, Corrado Castiglia, Lucia Bottitta, Maria Dhar, Shweta U Erwin, Deanna J Emrick, Lisa Keren, Boris Afenjar, Alexandra Zhu, Baosheng Bai, Bing Stankiewicz, Pawel Herman, Kristin Mercimek-Andrews, Saadet Juusola, Jane Wilfert, Amy B Abou Jamra, Rami Büttner, Benjamin Mefford, Heather C Muir, Alison M Scheffer, Ingrid E Regan, Brigid M Malone, Stephen Gecz, Jozef Cobben, Jan Weiss, Marjan M Waisfisz, Quinten Bijlsma, Emilia K Hoffer, Mariëtte J V Ruivenkamp, Claudia A L Sartori, Stefano Xia, Fan Rosenfeld, Jill A Bernier, Raphael A Wangler, Michael F Yamamoto, Shinya Xia, Kun Stegmann, Alexander P A Bellen, Hugo J Murgia, Alessandra Eichler, Evan E Producer: 20200114 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3797.	Dramatic increase in gene mutational burden after transformation of follicular lymphoma into TdT [electronic resource] by Belman, Jonathan P Meng, Wenzhao Wang, Hong Yi Li, Jie Strauser, Honore T Rosenfeld, Aaron M Zhang, Qian Prak, Eline T Luning Wasik, Mariusz Producer: 20210527 In: Cold Spring Harbor molecular case studies vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3798.	Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. [electronic resource] by Jinxiu, Liu Shuimei, Liang Ming, Xue Jonathan, Liu Cs Xiangju, Liu Wenyuan, Duan Producer: 20200423 In: Medicine vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3799.	A case of a novel mutation in HNF1β-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family. [electronic resource] by Wang, Yiting Zhao, Yingwang Zhang, Junlin Yang, Yuxiang Liu, Fang Producer: 20180402 In: Journal of diabetes and its complications vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3800.	An Exome-Wide Association Study Identifies New Susceptibility Loci for Age of Smoking Initiation in African- and European-American Populations. [electronic resource] by Jiang, Keran Yang, Zhongli Cui, Wenyan Su, Kunkai Ma, Jennie Z Payne, Thomas J Li, Ming D Producer: 20200403 In: Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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