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	3981.	Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. [electronic resource] by Ashraf, Shazia Kudo, Hiroki Rao, Jia Kikuchi, Atsuo Widmeier, Eugen Lawson, Jennifer A Tan, Weizhen Hermle, Tobias Warejko, Jillian K Shril, Shirlee Airik, Merlin Jobst-Schwan, Tilman Lovric, Svjetlana Braun, Daniela A Gee, Heon Yung Schapiro, David Majmundar, Amar J Sadowski, Carolin E Pabst, Werner L Daga, Ankana van der Ven, Amelie T Schmidt, Johanna M Low, Boon Chuan Gupta, Anjali Bansal Tripathi, Brajendra K Wong, Jenny Campbell, Kirk Metcalfe, Kay Schanze, Denny Niihori, Tetsuya Kaito, Hiroshi Nozu, Kandai Tsukaguchi, Hiroyasu Tanaka, Ryojiro Hamahira, Kiyoshi Kobayashi, Yasuko Takizawa, Takumi Funayama, Ryo Nakayama, Keiko Aoki, Yoko Kumagai, Naonori Iijima, Kazumoto Fehrenbach, Henry Kari, Jameela A El Desoky, Sherif Jalalah, Sawsan Bogdanovic, Radovan Stajić, Nataša Zappel, Hildegard Rakhmetova, Assel Wassmer, Sharon-Rose Jungraithmayr, Therese Strehlau, Juergen Kumar, Aravind Selvin Bagga, Arvind Soliman, Neveen A Mane, Shrikant M Kaufman, Lewis Lowy, Douglas R Jairajpuri, Mohamad A Lifton, Richard P Pei, York Zenker, Martin Kure, Shigeo Hildebrandt, Friedhelm Producer: 20181211 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3982.	Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort. [electronic resource] by Wu, Huidan Li, Honghui Bai, Ting Han, Lin Ou, Jianjun Xun, Guanglei Zhang, Yu Wang, Yazhe Duan, Guiqin Zhao, Ningxia Chen, Biyuan Du, Xiaogang Yao, Meiling Zou, Xiaobing Zhao, Jingping Hu, Zhengmao Eichler, Evan E Guo, Hui Xia, Kun Producer: 20210208 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3983.	Targeted sequencing in DLBCL, molecular subtypes, and outcomes: a Haematological Malignancy Research Network report. [electronic resource] by Lacy, Stuart E Barrans, Sharon L Beer, Philip A Painter, Daniel Smith, Alexandra G Roman, Eve Cooke, Susanna L Ruiz, Camilo Glover, Paul Van Hoppe, Suzan J L Webster, Nichola Campbell, Peter J Tooze, Reuben M Patmore, Russell Burton, Cathy Crouch, Simon Hodson, Daniel J Producer: 20201222 In: Blood vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3984.	Retrospective Cohort: Genomic Differences Between Pigmented Spindle Cell Nevi of Reed and Reed-Like Melanomas. [electronic resource] by Mohan, Lauren S Khan, Ayesha U Zhang, Bin Quan, Victor L Shi, Katherine Panah, Elnaz Isales, Maria Cristina Yazdan, Pedram Zhang, Yongzhan Beaubier, Nike Taxter, Timothy J Compres, Elsy V Kim, Daniel White, Kevin P Gerami, Pedram Producer: 20210705 In: The American Journal of dermatopathology vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3985.	Whole Exome Sequencing of Highly Aggregated Lung Cancer Families Reveals Linked Loci for Increased Cancer Risk on Chromosomes 12q, 7p, and 4q. [electronic resource] by Musolf, Anthony M Moiz, Bilal A Sun, Haiming Pikielny, Claudio W Bossé, Yohan Mandal, Diptasri de Andrade, Mariza Gaba, Colette Yang, Ping Li, Yafang You, Ming Govindan, Ramaswamy Wilson, Richard K Kupert, Elena Y Anderson, Marshall W Schwartz, Ann G Pinney, Susan M Amos, Christopher I Bailey-Wilson, Joan E Producer: 20210119 In: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3986.	A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). [electronic resource] by Grosz, Bianca R Golovchenko, Natasha B Ellis, Melina Kumar, Kishore Nicholson, Garth A Antonellis, Anthony Kennerson, Marina L Producer: 20201109 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3987.	Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study. [electronic resource] by Suzuki, Tasuku Sasahara, Yoji Kikuchi, Atsuo Kakuta, Humihiko Kashiwabara, Toshihiko Ishige, Takashi Nakayama, Yoshiko Tanaka, Masanori Hoshino, Akihiro Kanegane, Hirokazu Abukawa, Daiki Kure, Shigeo Producer: 20171207 In: Journal of clinical immunology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3988.	Epigenetic and genetic dissections of UV-induced global gene dysregulation in skin cells through multi-omics analyses. [electronic resource] by Shen, Yao Stanislauskas, Milda Li, Gen Zheng, Deyou Liu, Liang Producer: 20181030 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3989.	A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. [electronic resource] by Béziat, Vivien Li, Juan Lin, Jian-Xin Ma, Cindy S Li, Peng Bousfiha, Aziz Pellier, Isabelle Zoghi, Samaneh Baris, Safa Keles, Sevgi Gray, Paul Du, Ning Wang, Yi Zerbib, Yoann Lévy, Romain Leclercq, Thibaut About, Frédégonde Lim, Ai Ing Rao, Geetha Payne, Kathryn Pelham, Simon J Avery, Danielle T Deenick, Elissa K Pillay, Bethany Chou, Janet Guery, Romain Belkadi, Aziz Guérin, Antoine Migaud, Mélanie Rattina, Vimel Ailal, Fatima Benhsaien, Ibtihal Bouaziz, Matthieu Habib, Tanwir Chaussabel, Damien Marr, Nico El-Benna, Jamel Grimbacher, Bodo Wargon, Orli Bustamante, Jacinta Boisson, Bertrand Müller-Fleckenstein, Ingrid Fleckenstein, Bernhard Chandesris, Marie-Olivia Titeux, Matthias Fraitag, Sylvie Alyanakian, Marie-Alexandra Leruez-Ville, Marianne Picard, Capucine Meyts, Isabelle Di Santo, James P Hovnanian, Alain Somer, Ayper Ozen, Ahmet Rezaei, Nima Chatila, Talal A Abel, Laurent Leonard, Warren J Tangye, Stuart G Puel, Anne Casanova, Jean-Laurent Producer: 20190403 In: Science immunology vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3990.	Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. [electronic resource] by Dupont, Marie Alice Humbert, Camille Huber, Céline Siour, Quentin Guerrera, Ida Chiara Jung, Vincent Christensen, Anni Pouliet, Aurore Garfa-Traoré, Meriem Nitschké, Patrick Injeyan, Marie Millar, Kathryn Chitayat, David Shannon, Patrick Girisha, Katta Mohan Shukla, Anju Mechler, Charlotte Lorentzen, Esben Benmerah, Alexandre Cormier-Daire, Valérie Jeanpierre, Cécile Saunier, Sophie Delous, Marion Producer: 20200309 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3991.	Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. [electronic resource] by Peralta, Susana González-Quintana, Adrián Ybarra, Marta Delmiro, Aitor Pérez-Pérez, Rafael Docampo, Jorge Arenas, Joaquín Blázquez, Alberto Ugalde, Cristina Martín, Miguel A Producer: 20200603 In: Molecular genetics and metabolism vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3992.	Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. [electronic resource] by Gustafson, Margaret A McCormick, Elizabeth M Perera, Lalith Longley, Matthew J Bai, Renkui Kong, Jianping Dulik, Matthew Shen, Lishuang Goldstein, Amy C McCormack, Shana E Laskin, Benjamin L Leroy, Bart P Ortiz-Gonzalez, Xilma R Ellington, Meredith G Copeland, William C Falk, Marni J Producer: 20200316 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3993.	Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing. [electronic resource] by Chun, You Jin Choi, Jae Woo Hong, Min Hee Jung, Dongmin Son, Hyeonju Cho, Eun Kyung Min, Young Joo Kim, Sang-We Park, Keunchil Lee, Sung Sook Kim, Sangwoo Kim, Hye Ryun Cho, Byoung Chul Producer: 20200402 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3994.	Inactivation of Transcriptional Repressor Capicua Confers Sorafenib Resistance in Human Hepatocellular Carcinoma. [electronic resource] by Hashiba, Tomomi Yamashita, Taro Okada, Hikari Nio, Kouki Hayashi, Takehiro Asahina, Yoshiro Hayashi, Tomoyuki Terashima, Takeshi Iida, Noriho Takatori, Hajime Shimakami, Tetsuro Kawaguchi, Kazunori Arai, Kuniaki Sakai, Yoshio Yamashita, Tatsuya Mizukoshi, Eishiro Takamura, Hiroyuki Ohta, Tetsuo Honda, Masao Kaneko, Shuichi Producer: 20210709 In: Cellular and molecular gastroenterology and hepatology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3995.	Organoid cultures of early-onset colorectal cancers reveal distinct and rare genetic profiles. [electronic resource] by Yan, Helen H N Siu, Hoi Cheong Ho, Siu Lun Yue, Sarah S K Gao, Yang Tsui, Wai Yin Chan, Dessy Chan, April S Wong, Jason W H Man, Alice H Y Lee, Bernard C H Chan, Annie S Y Chan, Anthony K W Hui, Ho Sang Cheung, Arthur K L Law, Wai Lun Lo, Oswens S H Yuen, Siu Tsan Clevers, Hans Leung, Suet Yi Producer: 20210412 In: Gut vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3996.	Alteration of Transforming Growth Factor β Signaling Pathway Predicts Worse Prognosis in Pancreatic Ductal Adenocarcinoma. [electronic resource] by Li, Mao Li, Ang Zhao, Xiaochen Hou, Shengzhong Lu, Shan Mou, Yu Liu, Xubao Cai, Shangli Cao, Dan Tian, Bole Producer: 20210514 In: Pancreas vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3997.	Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24. [electronic resource] by Daschkey, Svenja Bienemann, Kirsten Schuster, Volker Kreth, Hans Wolfgang Linka, René Martin Hönscheid, Andrea Fritz, Gerhard Johannes, Christian Fleckenstein, Bernhard Kempkes, Bettina Gombert, Michael Ginzel, Sebastian Borkhardt, Arndt Producer: 20171207 In: Journal of clinical immunology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3998.	Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. [electronic resource] by Lahrouchi, Najim George, Aman Ratbi, Ilham Schneider, Ronen Elalaoui, Siham C Moosa, Shahida Bharti, Sanita Sharma, Ruchi Abu-Asab, Mones Onojafe, Felix Adadi, Najlae Lodder, Elisabeth M Laarabi, Fatima-Zahra Lamsyah, Yassine Elorch, Hamza Chebbar, Imane Postma, Alex V Lougaris, Vassilios Plebani, Alessandro Altmueller, Janine Kyrieleis, Henriette Meiner, Vardiella McNeill, Helen Bharti, Kapil Lyonnet, Stanislas Wollnik, Bernd Henrion-Caude, Alexandra Berraho, Amina Hildebrandt, Friedhelm Bezzina, Connie R Brooks, Brian P Sefiani, Abdelaziz Producer: 20190405 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3999.	High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH. [electronic resource] by Plachy, Lukas Strakova, Veronika Elblova, Lenka Obermannova, Barbora Kolouskova, Stanislava Snajderova, Marta Zemkova, Dana Dusatkova, Petra Sumnik, Zdenek Lebl, Jan Pruhova, Stepanka Producer: 20200529 In: The Journal of clinical endocrinology and metabolism vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4000.	Intracranial Aneurysms: Pathology, Genetics, and Molecular Mechanisms. [electronic resource] by Xu, Zhen Rui, Yan-Ning Hagan, John P Kim, Dong H Producer: 20210201 In: Neuromolecular medicine vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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