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	3401.	Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. [electronic resource] by Yoshimura, A Yuan, J-H Hashiguchi, A Hiramatsu, Y Ando, M Higuchi, Y Nakamura, T Okamoto, Y Matsumura, K Hamano, T Sawaura, N Shimatani, Y Kumada, S Okumura, Y Miyahara, J Yamaguchi, Y Kitamura, S Haginoya, K Mitsui, J Ishiura, H Tsuji, S Takashima, H 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)
	3402.	Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. [electronic resource] by Hall, Gentzon Lane, Brandon Chryst-Ladd, Megan Wu, Guanghong Lin, Jen-Jar Qin, XueJun Hauser, Elizabeth R Gbadegesin, Rasheed Producer: 20181029 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3403.	Genomic Profiling of Patient-Derived Xenografts for Lung Cancer Identifies [electronic resource] by Pereira, Carolina Gimenez-Xavier, Pol Pros, Eva Pajares, Maria J Moro, Massimo Gomez, Antonio Navarro, Alejandro Condom, Enric Moran, Sebastian Gomez-Lopez, Gonzalo Graña, Osvaldo Rubio-Camarillo, Miriam Martinez-Martí, Alex Yokota, Jun Carretero, Julian Galbis, Jose M Nadal, Ernest Pisano, David Sozzi, Gabriella Felip, Enriqueta Montuenga, Luis M Roz, Luca Villanueva, Alberto Sanchez-Cespedes, Montse Producer: 20180321 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3404.	Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. [electronic resource] by Schormair, B Kemlink, D Mollenhauer, B Fiala, O Machetanz, G Roth, J Berutti, R Strom, T M Haslinger, B Trenkwalder, C Zahorakova, D Martasek, P Ruzicka, E Winkelmann, J Producer: 20190911 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3405.	A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes. [electronic resource] by Zhang, Chaolin Shen, Yufeng Producer: 20180112 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3406.	Rare genetic variants potentially involved in ovarian hyperstimulation syndrome. [electronic resource] by Stouffs, Katrien Daelemans, Sari Santos-Ribeiro, Samuel Seneca, Sara Gheldof, Alexander Gürbüz, Ali Sami De Vos, Michel Tournaye, Herman Blockeel, Christophe Producer: 20190424 In: Journal of assisted reproduction and genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3407.	Distinct Biological Types of Ocular Adnexal Sebaceous Carcinoma: HPV-Driven and Virus-Negative Tumors Arise through Nonoverlapping Molecular-Genetic Alterations. [electronic resource] by Tetzlaff, Michael T Curry, Jonathan L Ning, Jing Sagiv, Oded Kandl, Thomas L Peng, Bo Bell, Diana Routbort, Mark Hudgens, Courtney W Ivan, Doina Kim, Tae-Boom Chen, Ken Eterovic, Agda Karina Shaw, Kenna Prieto, Victor G Yemelyanova, Anna Esmaeli, Bita Producer: 20200420 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)
	3408.	EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency. [electronic resource] by Schipp, Cyrill Schlütermann, David Hönscheid, Andrea Nabhani, Schafiq Höll, Jessica Oommen, Prasad T Ginzel, Sebastian Fleckenstein, Bernhard Stork, Björn Borkhardt, Arndt Stepensky, Polina Fischer, Ute Producer: 20191002 In: Frontiers in immunology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3409.	A clinical trial of somatic and germline analyses for healthy longevity in a postoperative cancer patient. [electronic resource] by Hayashi, Naoki Kuroda, Yosuke Saito, Tomoko Tsuruda, Yusuke Niida, Atsushi Otsu, Hajime Eguchi, Hidetoshi Masuda, Takaaki Suzuki, Yutaka Natsugoe, Shoji Mimori, Koshi Producer: 20200127 In: Surgery today vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3410.	MAP1B related syndrome: Case presentation and review of literature. [electronic resource] by Julca, Diana M Diaz, Jullianne Berger, Seth Leon, Eyby Producer: 20200803 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3411.	Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas. [electronic resource] by Guerreiro Stucklin, Ana S Ryall, Scott Fukuoka, Kohei Zapotocky, Michal Lassaletta, Alvaro Li, Christopher Bridge, Taylor Kim, Byungjin Arnoldo, Anthony Kowalski, Paul E Zhong, Yvonne Johnson, Monique Li, Claire Ramani, Arun K Siddaway, Robert Nobre, Liana Figueiredo de Antonellis, Pasqualino Dunham, Christopher Cheng, Sylvia Boué, Daniel R Finlay, Jonathan L Coven, Scott L de Prada, Inmaculada Perez-Somarriba, Marta Faria, Claudia C Grotzer, Michael A Rushing, Elisabeth Sumerauer, David Zamecnik, Josef Krskova, Lenka Garcia Ariza, Miguel Cruz, Ofelia Morales La Madrid, Andres Solano, Palma Terashima, Keita Nakano, Yoshiko Ichimura, Koichi Nagane, Motoo Sakamoto, Hiroaki Gil-da-Costa, Maria Joao Silva, Roberto Johnston, Donna L Michaud, Jean Wilson, Bev van Landeghem, Frank K H Oviedo, Angelica McNeely, P Daniel Crooks, Bruce Fried, Iris Zhukova, Nataliya Hansford, Jordan R Nageswararao, Amulya Garzia, Livia Shago, Mary Brudno, Michael Irwin, Meredith S Bartels, Ute Ramaswamy, Vijay Bouffet, Eric Taylor, Michael D Tabori, Uri Hawkins, Cynthia Producer: 20200113 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3412.	Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis. [electronic resource] by Sherrill, Joseph D Kc, Kiran Wang, Xinjian Wen, Ting Chamberlin, Adam Stucke, Emily M Collins, Margaret H Abonia, J Pablo Peng, Yanyan Wu, Qiang Putnam, Philip E Dexheimer, Phillip J Aronow, Bruce J Kottyan, Leah C Kaufman, Kenneth M Harley, John B Huang, Taosheng Rothenberg, Marc E Producer: 20191120 In: JCI insight vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3413.	Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause. [electronic resource] by Yang, Chin-An Chou, I-Ching Cho, Der-Yang Lin, Chien-Yu Huang, Hsi-Yuan Ho, Yu-Chen Liu, Ting-Yuan Li, Ying-Hsuan Chang, Jan-Gowth Producer: 20190926 In: Neurogenetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3414.	Telomere length alterations in microsatellite stable colorectal cancer and association with the immune response. [electronic resource] by Lopez-Doriga, Adriana Valle, Laura Alonso, M Henar Aussó, Susanna Closa, Adrià Sanjuan, Xavier Barquero, David Rodríguez-Moranta, Francisco Sanz-Pamplona, Rebeca Moreno, Victor Producer: 20181211 In: Biochimica et biophysica acta. Molecular basis of disease vol. 1864 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3415.	Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma. [electronic resource] by Mithraprabhu, Sridurga Sirdesai, Shreerang Chen, Maoshan Khong, Tiffany Spencer, Andrew Producer: 20181011 In: International journal of molecular sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3416.	Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. [electronic resource] by Warejko, Jillian K Tan, Weizhen Daga, Ankana Schapiro, David Lawson, Jennifer A Shril, Shirlee Lovric, Svjetlana Ashraf, Shazia Rao, Jia Hermle, Tobias Jobst-Schwan, Tilman Widmeier, Eugen Majmundar, Amar J Schneider, Ronen Gee, Heon Yung Schmidt, J Magdalena Vivante, Asaf van der Ven, Amelie T Ityel, Hadas Chen, Jing Sadowski, Carolin E Kohl, Stefan Pabst, Werner L Nakayama, Makiko Somers, Michael J G Rodig, Nancy M Daouk, Ghaleb Baum, Michelle Stein, Deborah R Ferguson, Michael A Traum, Avram Z Soliman, Neveen A Kari, Jameela A El Desoky, Sherif Fathy, Hanan Zenker, Martin Bakkaloglu, Sevcan A Müller, Dominik Noyan, Aytul Ozaltin, Fatih Cadnapaphornchai, Melissa A Hashmi, Seema Hopcian, Jeffrey Kopp, Jeffrey B Benador, Nadine Bockenhauer, Detlef Bogdanovic, Radovan Stajić, Nataša Chernin, Gil Ettenger, Robert Fehrenbach, Henry Kemper, Markus Munarriz, Reyner Loza Podracka, Ludmila Büscher, Rainer Serdaroglu, Erkin Tasic, Velibor Mane, Shrikant Lifton, Richard P Braun, Daniela A Hildebrandt, Friedhelm Producer: 20190716 In: Clinical journal of the American Society of Nephrology : CJASN vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3417.	p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome. [electronic resource] by Hebbar, Malavika Kanthi, Anil Shrikiran, Aroor Patil, Snehal Muranjan, Mamta Francis, Febi Bhat B, Vishnu Girisha, Katta M Shukla, Anju 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)
	3418.	Reducing the structure bias of RNA-Seq reveals a large number of non-annotated non-coding RNA. [electronic resource] by Boivin, Vincent Reulet, Gaspard Boisvert, Olivier Couture, Sonia Elela, Sherif Abou Scott, Michelle S Producer: 20200520 In: Nucleic acids research vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3419.	Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient. [electronic resource] by Katagiri, Satoshi Hosono, Katsuhiro Hayashi, Takaaki Murai, Noriyuki Wake, Eiichi Miyata, Ichiro Mizobuchi, Kei Kurata, Kentaro Matsuura, Tomokazu Nakano, Tadashi Hotta, Yoshihiro Producer: 20201002 In: Documenta ophthalmologica. Advances in ophthalmology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3420.	Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. [electronic resource] by Satterstrom, F Kyle Kosmicki, Jack A Wang, Jiebiao Breen, Michael S De Rubeis, Silvia An, Joon-Yong Peng, Minshi Collins, Ryan Grove, Jakob Klei, Lambertus Stevens, Christine Reichert, Jennifer Mulhern, Maureen S Artomov, Mykyta Gerges, Sherif Sheppard, Brooke Xu, Xinyi Bhaduri, Aparna Norman, Utku Brand, Harrison Schwartz, Grace Nguyen, Rachel Guerrero, Elizabeth E Dias, Caroline Betancur, Catalina Cook, Edwin H Gallagher, Louise Gill, Michael Sutcliffe, James S Thurm, Audrey Zwick, Michael E Børglum, Anders D State, Matthew W Cicek, A Ercument Talkowski, Michael E Cutler, David J Devlin, Bernie Sanders, Stephan J Roeder, Kathryn Daly, Mark J Buxbaum, Joseph D Producer: 20200821 In: Cell vol. 180 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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