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	2501.	Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation. [electronic resource] by Yamamoto-Shimojima, Keiko Imaizumi, Taichi Akagawa, Hiroyuki Kanno, Hitoshi Yamamoto, Toshiyuki Producer: 20210104 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2502.	Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature. [electronic resource] by Gug, Cristina Caba, Lavinia Mozos, Ioana Stoian, Dana Atasie, Diter Gug, Miruna Gorduza, Eusebiu Vlad Producer: 20200424 In: Gene vol. 741 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2503.	A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome. [electronic resource] by Bekhouche, Bahia Tourville, Aurore Ravichandran, Yamini Tacine, Rachida Abrami, Laurence Dussiot, Michael Khau-Dancasius, Andrea Boccara, Olivia Khirat, Meriem Mangeney, Marianne Dingli, Florent Loew, Damarys Boëda, Batiste Jordan, Pénélope Molina, Thierry Jo Bellon, Nathalia Fraitag, Sylvie Hadj-Rabia, Smail Blanche, Stéphane Puel, Anne Etienne-Manneville, Sandrine van der Goot, F Gisou Cherfils, Jacqueline Hermine, Olivier Casanova, Jean-Laurent Bodemer, Christine Smahi, Asma Delon, Jérôme Producer: 20210315 In: The Journal of allergy and clinical immunology vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2504.	CEOP/IVE/GDP alternating regimen compared with CEOP as the first-line therapy for newly diagnosed patients with peripheral T cell lymphoma: results from a phase 2, multicenter, randomized, controlled clinical trial. [electronic resource] by Cai, Ming-Ci Cheng, Shu Wang, Xin Hu, Jian-Da Song, Yong-Ping Huang, Yao-Hui Yan, Zi-Xun Jiang, Yu-Jie Fang, Xiao-Sheng Zheng, Xiao-Yun Dong, Li-Hua Ji, Meng-Meng Wang, Li Xu, Peng-Peng Zhao, Wei-Li Producer: 20210513 In: Genome medicine vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2505.	Monitoring multiple myeloma by quantification of recurrent mutations in serum. [electronic resource] by Rustad, Even Holth Coward, Eivind Skytøen, Emilie R Misund, Kristine Holien, Toril Standal, Therese Børset, Magne Beisvag, Vidar Myklebost, Ola Meza-Zepeda, Leonardo A Dai, Hong Yan Sundan, Anders Waage, Anders Producer: 20180326 In: Haematologica vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2506.	Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy. [electronic resource] by Chen, Hui Zhou, Xueya Wang, Jing Wang, Xi Liu, Liyang Wu, Shinan Li, Tengyan Chen, Si Yang, Jingwen Sham, Pak Chung Zhu, Guangming Zhang, Xuegong Wang, Binbin Producer: 20180423 In: Scientific reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2507.	Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis. [electronic resource] by Ruzzenente, Benedetta Assouline, Zahra Barcia, Giulia Rio, Marlène Boddaert, Nathalie Munnich, Arnold Rötig, Agnès Metodiev, Metodi D Producer: 20191007 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2508.	Monozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation. [electronic resource] by Foster, Jennifer H Williams, Chris L Elghetany, Mohamed Tarek Liu, Pengfei Krance, Robert A Bertuch, Alison A Gramatges, Maria Monica Producer: 20200622 In: Leukemia & lymphoma vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2509.	High-frequency actionable pathogenic exome variants in an average-risk cohort. [electronic resource] by Rego, Shannon Dagan-Rosenfeld, Orit Zhou, Wenyu Sailani, M Reza Limcaoco, Patricia Colbert, Elizabeth Avina, Monika Wheeler, Jessica Craig, Colleen Salins, Denis Röst, Hannes L Dunn, Jessilyn McLaughlin, Tracey Steinmetz, Lars M Bernstein, Jonathan A Snyder, Michael P Producer: 20190917 In: Cold Spring Harbor molecular case studies vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2510.	Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. [electronic resource] by Petrovski, Slavé Aggarwal, Vimla Giordano, Jessica L Stosic, Melissa Wou, Karen Bier, Louise Spiegel, Erica Brennan, Kelly Stong, Nicholas Jobanputra, Vaidehi Ren, Zhong Zhu, Xiaolin Mebane, Caroline Nahum, Odelia Wang, Quanli Kamalakaran, Sitharthan Malone, Colin Anyane-Yeboa, Kwame Miller, Russell Levy, Brynn Goldstein, David B Wapner, Ronald J Producer: 20190418 In: Lancet (London, England) vol. 393 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2511.	Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women. [electronic resource] by Park, Charny Yoon, Kyong-Ah Kim, Jihyun Park, In Hae Park, Soo Jin Kim, Min Kyeong Jang, Wooyeong Cho, Soo Young Park, Boyoung Kong, Sun-Young Lee, Eun Sook Producer: 20190517 In: Cancer science vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2512.	Discovery of Aberrant Alteration of Genome in Colorectal Cancer by Exome Sequencing. [electronic resource] by Liang, Yuanzi Jiang, Liejun Zhong, Xiaogang Hochwald, Steven N Wang, Yongsi Huang, Lihe Nie, Qiumiao Huang, Huayi Xu, Jun-Fa Producer: 20200317 In: The American journal of the medical sciences vol. 358 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2513.	Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients. [electronic resource] by Park, Jihye Oh, Hyun Mi Park, Hye Jung Cho, Ah-Ra Lee, Dong-Woo Jang, Ja-Hyun Jang, Dae-Hyun Producer: 20200622 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)
	2514.	Oncogenic effects of germline variants in lysosomal storage disease genes. [electronic resource] by Shin, Junghoon Kim, Daeyoon Kim, Hyung-Lae Choi, Murim Koh, Youngil Yoon, Sung-Soo Producer: 20200501 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)
	2515.	A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. [electronic resource] by Kim, Young Ok Yun, Misun Jeong, Jae Ho Choi, Seong Min Kim, Seul Kee Yoon, Woong Park, Chungoo Hong, Yeongjin Woo, Young Jong Producer: 20180129 In: Journal of Korean medical science vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2516.	Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. [electronic resource] by Taskiran, Ekim Z Karaosmanoglu, Beren Koşukcu, Can Doğan, Özlem A Taylan-Şekeroğlu, Hande Şimşek-Kiper, Pelin Ö Utine, Eda G Boduroğlu, Koray Alikaşifoğlu, Mehmet Producer: 20180321 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2517.	Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations. [electronic resource] by Ciara, Elżbieta Rokicki, Dariusz Lazniewski, Michal Mierzewska, Hanna Jurkiewicz, Elżbieta Bekiesińska-Figatowska, Monika Piekutowska-Abramczuk, Dorota Iwanicka-Pronicka, Katarzyna Szymańska, Edyta Stawiński, Piotr Kosińska, Joanna Pollak, Agnieszka Pronicki, Maciej Plewczyński, Dariusz Płoski, Rafał Pronicka, Ewa Producer: 20180905 In: Journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2518.	Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency. [electronic resource] by Simm, Franziska Griesbeck, Anne Choukair, Daniela Weiß, Birgit Paramasivam, Nagarajan Klammt, Jürgen Schlesner, Matthias Wiemann, Stefan Martinez, Cristina Hoffmann, Georg F Pfäffle, Roland W Bettendorf, Markus Rappold, Gudrun A Producer: 20181211 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2519.	Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. [electronic resource] by Lee, Jong-Mok Lim, Jeong Geun Shin, Jin-Hong Park, Young-Eun Kim, Dae-Seong Producer: 20180820 In: Journal of the neurological sciences vol. 383 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2520.	IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome. [electronic resource] by Dieudonné, Yannick Guffroy, Aurélien Vollmer, Olivier Carapito, Raphael Korganow, Anne-Sophie Producer: 20200619 In: Journal of clinical immunology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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