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	1.	Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt. [electronic resource] by Weiss, Karin Kurolap, Alina Paperna, Tamar Mory, Adi Steinberg, Maya Hershkovitz, Tova Ekhilevitch, Nina Baris, Hagit N Publication details: Rambam Maimonides medical journal Jul 2018 In: Rambam Maimonides medical journal vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. [electronic resource] by Weiss, Karin Ekhilevitch, Nina Cohen, Lior Bratman-Morag, Sharon Bello, Rachel Martinez, Ariel F Hadid, Yarin Shlush, Liran I Kurolap, Alina Paperna, Tamar Mory, Adi Baris, Hagit N Muenke, Maximilian Producer: 20201005 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. [electronic resource] by Mizuguchi, Takeshi Nakashima, Mitsuko Kato, Mitsuhiro Yamada, Keitaro Okanishi, Tohru Ekhilevitch, Nina Mandel, Hanna Eran, Ayelet Toyono, Miyuki Sawaishi, Yukio Motoi, Hirotaka Shiina, Masaaki Ogata, Kazuhiro Miyatake, Satoko Miyake, Noriko Saitsu, Hirotomo Matsumoto, Naomichi Producer: 20180111 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. [electronic resource] by Mizuguchi, Takeshi Nakashima, Mitsuko Kato, Mitsuhiro Yamada, Keitaro Okanishi, Tohru Ekhilevitch, Nina Mandel, Hanna Eran, Ayelet Toyono, Miyuki Sawaishi, Yukio Motoi, Hirotaka Shiina, Masaaki Ogata, Kazuhiro Miyatake, Satoko Miyake, Noriko Saitsu, Hirotomo Matsumoto, Naomichi Publication details: Journal of human genetics 04 2017 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. [electronic resource] by Kurolap, Alina Armbruster, Anja Hershkovitz, Tova Hauf, Katharina Mory, Adi Paperna, Tamar Hannappel, Ewald Tal, Galit Nijem, Yusif Sella, Ella Mahajnah, Muhammad Ilivitzki, Anat Hershkovitz, Dov Ekhilevitch, Nina Mandel, Hanna Eulenburg, Volker Baris, Hagit N Producer: 20170519 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. [electronic resource] by Mizuguchi, Takeshi Nakashima, Mitsuko Kato, Mitsuhiro Okamoto, Nobuhiko Kurahashi, Hirokazu Ekhilevitch, Nina Shiina, Masaaki Nishimura, Gen Shibata, Takashi Matsuo, Muneaki Ikeda, Tae Ogata, Kazuhiro Tsuchida, Naomi Mitsuhashi, Satomi Miyatake, Satoko Takata, Atsushi Miyake, Noriko Hata, Kenichiro Kaname, Tadashi Matsubara, Yoichi Saitsu, Hirotomo Matsumoto, Naomichi Producer: 20190208 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. [electronic resource] by Hamanaka, Kohei Imagawa, Eri Koshimizu, Eriko Miyatake, Satoko Tohyama, Jun Yamagata, Takanori Miyauchi, Akihiko Ekhilevitch, Nina Nakamura, Fumio Kawashima, Takeshi Goshima, Yoshio Mohamed, Ahmad Rithauddin Ch'ng, Gaik-Siew Fujita, Atsushi Azuma, Yoshiteru Yasuda, Ken Imamura, Shintaro Nakashima, Mitsuko Saitsu, Hirotomo Mitsuhashi, Satomi Mizuguchi, Takeshi Takata, Atsushi Miyake, Noriko Matsumoto, Naomichi Producer: 20200511 In: American journal of human genetics vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)