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	3601.	Whole-Exome Sequencing Implicates [electronic resource] by Maksemous, Neven Smith, Robert A Sutherland, Heidi G Sampaio, Hugo Griffiths, Lyn R Producer: 20190114 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)
	3602.	Integrative genomic analysis of matched primary and metastatic pediatric osteosarcoma. [electronic resource] by Negri, Gian Luca Grande, Bruno M Delaidelli, Alberto El-Naggar, Amal Cochrane, Dawn Lau, Ching C Triche, Timothy J Moore, Richard A Jones, Steven Jm Montpetit, Alexandre Marra, Marco A Malkin, David Morin, Ryan D Sorensen, Poul H Producer: 20200413 In: The Journal of pathology vol. 249 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3603.	UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. [electronic resource] by Nan, Haitian Ichinose, Yuta Tanaka, Masaki Koh, Kishin Ishiura, Hiroyuki Mitsui, Jun Mizukami, Heisuke Morimoto, Masafumi Hamada, Shun Ohtsuka, Toshihisa Tsuji, Shoji Takiyama, Yoshihisa Producer: 20200207 In: Journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3604.	Tumor mutation burden and immunological, genomic, and clinicopathological factors as biomarkers for checkpoint inhibitor treatment of patients with non-small-cell lung cancer. [electronic resource] by Ozaki, Yuki Muto, Satoshi Takagi, Hironori Watanabe, Masayuki Inoue, Takuya Fukuhara, Mitsuro Yamaura, Takumi Okabe, Naoyuki Matsumura, Yuki Hasegawa, Takeo Ohsugi, Jun Hoshino, Mika Shio, Yutaka Tanaka, Daisuke Nanamiya, Hideaki Imai, Jun-Ichi Isogai, Takao Watanabe, Shinya Suzuki, Hiroyuki Producer: 20200214 In: Cancer immunology, immunotherapy : CII vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3605.	A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family. [electronic resource] by Chen, Jia Yuan, Huizhen Xie, Kang Wang, Xinrong Tan, Linglong Zou, Yongyi Yang, Yan Pan, Lu Xiao, Junfang Chen, Ge Liu, Yanqiu Producer: 20201013 In: BMC cardiovascular disorders vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3606.	Multiple synostoses syndrome: Clinical report and retrospective analysis. [electronic resource] by Pan, Zhaoyu Lu, Wei Li, Xiaohong Huang, Shasha Dai, Pu Yuan, Yongyi Producer: 20210128 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)
	3607.	Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability. [electronic resource] by Muthusamy, Babylakshmi Selvan, Lakshmi Dhevi N Nguyen, Thong T Manoj, Jesna Stawiski, Eric W Jaiswal, Bijay S Wang, Weiru Raja, Remya Ramprasad, Vedam Laxmi Gupta, Ravi Murugan, Sakthivel Kadandale, Jayarama S Prasad, T S Keshava Reddy, Kavita Peterson, Andrew Pandey, Akhilesh Seshagiri, Somasekar Girimaji, Satish Chandra Gowda, Harsha Producer: 20180223 In: Omics : a journal of integrative biology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3608.	Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation. [electronic resource] by Eicher, John D Chen, Ming-Huei Pitsillides, Achilleas N Lin, Honghuang Veeraraghavan, Narayanan Brody, Jennifer A Metcalf, Ginger A Muzny, Donna M Gibbs, Richard A Becker, Diane M Becker, Lewis C Faraday, Nauder Mathias, Rasika A Yanek, Lisa R Boerwinkle, Eric Cupples, L Adrienne Johnson, Andrew D Producer: 20180518 In: Thrombosis and haemostasis vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3609.	Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. [electronic resource] by Ando, Masahiro Hashiguchi, Akihiro Okamoto, Yuji Yoshimura, Akiko Hiramatsu, Yu Yuan, Junhui Higuchi, Yujiro Mitsui, Jun Ishiura, Hiroyuki Umemura, Ayako Maruyama, Koichi Matsushige, Takeshi Morishita, Shinichi Nakagawa, Masanori Tsuji, Shoji Takashima, Hiroshi Producer: 20180508 In: Journal of the peripheral nervous system : JPNS vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3610.	The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. [electronic resource] by Fukuda, Yu Cheong, Pak Leng Lynch, John Brighton, Cheryl Frase, Sharon Kargas, Vasileios Rampersaud, Evadnie Wang, Yao Sankaran, Vijay G Yu, Bing Ney, Paul A Weiss, Mitchell J Vogel, Peter Bond, Peter J Ford, Robert C Trent, Ronald J Schuetz, John D Producer: 20180904 In: Nature communications vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3611.	Thyroid hormone regulates hematopoiesis via the TR-KLF9 axis. [electronic resource] by Zhang, Ying Xue, Yuanyuan Cao, Chunwei Huang, Jiaojiao Hong, Qianlong Hai, Tang Jia, Qitao Wang, Xianlong Qin, Guosong Yao, Jing Wang, Xiao Zheng, Qiantao Zhang, Rui Li, Yongshun Luo, Ailing Zhang, Nan Shi, Guizhi Wang, Yanfang Ying, Hao Liu, Zhonghua Wang, Hongmei Meng, Anming Zhou, Qi Wei, Hong Liu, Feng Zhao, Jianguo Producer: 20171128 In: Blood vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3612.	De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. [electronic resource] by Nakashima, Mitsuko Kato, Mitsuhiro Aoto, Kazushi Shiina, Masaaki Belal, Hazrat Mukaida, Souichi Kumada, Satoko Sato, Atsushi Zerem, Ayelet Lerman-Sagie, Tally Lev, Dorit Leong, Huey Yin Tsurusaki, Yoshinori Mizuguchi, Takeshi Miyatake, Satoko Miyake, Noriko Ogata, Kazuhiro Saitsu, Hirotomo Matsumoto, Naomichi Producer: 20190802 In: Annals of neurology vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3613.	A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome. [electronic resource] by Potuijt, Jacob W P Baas, Martijn Sukenik-Halevy, Rivka Douben, Hannie Nguyen, Picard Venter, Deon J Gallagher, Renée Swagemakers, Sigrid M Hovius, Steven E R van Nieuwenhoven, Christianne A Galjaard, Robert-Jan H van der Spek, Peter J Ahituv, Nadav de Klein, Annelies Producer: 20190213 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)
	3614.	ADAMTSL1 and mandibular prognathism. [electronic resource] by Kantaputra, Piranit N Pruksametanan, Apitchaya Phondee, Nattapol Hutsadaloi, Athiwat Intachai, Worrachet Kawasaki, Katsushig Ohazama, Atsushi Ngamphiw, Chumpol Tongsima, Sissades Ketudat Cairns, James R Tripuwabhrut, Polbhat Producer: 20200518 In: Clinical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3615.	Mutated EPHA2 is a target for combating lymphatic metastasis in intrahepatic cholangiocarcinoma. [electronic resource] by Sheng, Yuanyuan Wei, Jinwang Zhang, Yu Gao, Xiaomei Wang, Zheng Yang, Jing Yan, Shican Zhu, Ying Zhang, Ze Xu, Da Wang, Chaoqun Zheng, Yan Dong, Qiongzhu Qin, Lunxiu Producer: 20190806 In: International journal of cancer vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3616.	Expanding the clinical phenotype of IARS2-related mitochondrial disease. [electronic resource] by Vona, Barbara Maroofian, Reza Bellacchio, Emanuele Najafi, Maryam Thompson, Kyle Alahmad, Ahmad He, Langping Ahangari, Najmeh Rad, Abolfazl Shahrokhzadeh, Sima Bahena, Paulina Mittag, Falk Traub, Frank Movaffagh, Jebrail Amiri, Nafise Doosti, Mohammad Boostani, Reza Shirzadeh, Ebrahim Haaf, Thomas Diodato, Daria Schmidts, Miriam Taylor, Robert W Karimiani, Ehsan Ghayoor Producer: 20190522 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3617.	Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects. [electronic resource] by Mishra, Aniket Chauhan, Ganesh Violleau, Marie-Helene Vojinovic, Dina Jian, Xueqiu Bis, Joshua C Li, Shuo Saba, Yasaman Grenier-Boley, Benjamin Yang, Qiong Bartz, Traci M Hofer, Edith Soumaré, Aïcha Peng, Fen Duperron, Marie-Gabrielle Foglio, Mario Mosley, Thomas H Schmidt, Reinhold Psaty, Bruce M Launer, Lenore J Boerwinkle, Eric Zhu, Yicheng Mazoyer, Bernard Lathrop, Mark Bellenguez, Celine Van Duijn, Cornelia M Ikram, M Arfan Schmidt, Helena Longstreth, W T Fornage, Myriam Seshadri, Sudha Joutel, Anne Tzourio, Christophe Debette, Stephanie Producer: 20191210 In: Brain : a journal of neurology vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3618.	Genetic and epigenetic profiling of the infertile male. [electronic resource] by Cheung, Stephanie Parrella, Alessandra Rosenwaks, Zev Palermo, Gianpiero D Producer: 20191216 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3619.	The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. [electronic resource] by Parvin, Shaho Rezazadeh, Maryam Hosseinzadeh, Hassan Moradi, Mohsen Shiva, Shadi Gharesouran, Jalal 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)
	3620.	Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. [electronic resource] by Zarate, Yuri A Boccuto, Luigi Srikanth, Sujata Pauly, Rini Ocal, Eylem Balmakund, Tonya Hinkle, Kevin Stefans, Vikki Schaefer, Gerald B Collins, Ronnie Thomas Producer: 20200610 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)

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