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收藏Brain tumor classification from FFPE samples using nanopore methylation sequencing使用纳米孔甲基化测序对FFPE样本进行脑肿瘤分类
Feinberg-Gorenshtein, Galina; Grunwald, Assaf; Vermeulen, Carlo; Mark, Nurit Gal; Shinderman-Maman, Elena; Levy-Barda, Adva; Shichrur, Keren; Hameiri-Grossman, Michal; Michaeli, Orli; Amar, Shira; Fichman, Suzanna; Natan, Abraham; Siegal, Tali; Yust-Katz, Shlomit; Weiss, Hanna; Konen, Osnat; Kershenovich, Amir; Kanner, Andrew a; De ridder, Jeroen; Toledano, Helen; Izraeli, Shai; Birger, Yehudit; Ebenstein, Yuval 分享 收藏 分享 收藏 分享 收藏 Prospective Validation of the Lemann Index in Children: A Report From the Multicentre ImageKids StudyFocht, Gili; Kuint, Ruth Cytter; Greer, Mary-Louise C.; Pratt, Li-Tal; Castro, Denise A.; Church, Peter C.; Manuel Navas-Lopez, Victor; Baldassano, Robert N.; Mortensen, Joachim Hog; Rieder, Florian; Yerushalmi, Baruch; Ilivitzki, Anat; Konen, Osnat; Griffiths, Anne M.; Turner, Dan 分享 收藏 分享 收藏 Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disabilityLi, Lin; Ghorbani, Mohammad; Weisz-Hubshman, Monika; Rousseau, Justine; Thiffault, Isabelle; Schnur, Rhonda E.; Breen, Catherine; Oegema, Renske; Weiss, Marjan M. M.; Waisfisz, Quinten; Welner, Sara; Kingston, Helen; Hills, Jordan A.; Boon, Elles M. J.; Basel-Salmon, Lina; Konen, Osnat; Goldberg-Stern, Hadassa; Bazak, Lily; Tzur, Shay; Jin, Jianliang; Bi, Xiuli; Bruccoleri, Michael; McWalter, Kirsty; Cho, Megan T.; Scarano, Maria; Schaefer, G. Bradley; Brooks, Susan S.; Hughes, Susan Starling; van Gassen, K. L., I; van Hagen, Johanna M.; Pandita, Tej K.; Agrawal, Pankaj B.; Campeau, Philippe M.; Yang, Xiang-Jiao 分享 收藏 De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizuresPAK1的De novo变体导致智力残疾，并伴随大头畸形和癫痫发作Horn, Susanne; Au, Margaret; Basel-Salmon, Lina; Bayrak-Toydemir, Pinar; Chapin, Alexander; Cohen, Lior; Elting, Mariet W.; Graham, John M., Jr.; Gonzaga-Jauregui, Claudia; Konen, Osnat; Holzer, Max; Lemke, Johannes; Miller, Christine E.; Rey, Linda K.; Wolf, Nicole I.; Weiss, Marjan M.; Waisfisz, Quinten; Mirzaa, Ghayda M.; Wieczorek, Dagmar; Sticht, Heinrich; Abou Jamra, Rami 分享 收藏 DEGS1 variant causes neurological disorderDolgin, Vadim; Straussberg, Rachel; Xu, Ruijuan; Mileva, Izolda; Yogev, Yuval; Khoury, Raed; Konen, Osnat; Barhum, Yael; Zvulunov, Alex; Mao, Cungui; Birk, Ohad S. 分享 收藏 分享 收藏 Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunitZeharia, Avraham; Friedman, Jonathan R.; Tobar, Ana; Saada, Ann; Konen, Osnat; Fellig, Yacov; Shaag, Avraham; Nunnari, Jodi; Elpeleg, Orly 分享 收藏 Homozygous MED25 mutation implicated in eye-intellectual disability syndromeBasel-Vanagaite, Lina; Smirin-Yosef, Pola; Essakow, Jenna Lee; Tzur, Shay; Lagovsky, Irina; Maya, Idit; Pasmanik-Chor, Metsada; Yeheskel, Adva; Konen, Osnat; Orenstein, Naama; Hubshman, Monika Weisz; Drasinover, Valerie; Magal, Nurit; Amit, Gaby Peretz; Zalzstein, Yael; Zeharia, Avraham; Shohat, Mordechai; Straussberg, Rachel; Monte, Didier; Salmon-Divon, Mali; Behar, Doron M. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability SyndromeBasel-Vanagaite, Lina; Dallapiccola, Bruno; Ramirez-Solis, Ramiro; Segref, Alexandra; Thiele, Holger; Edwards, Andrew; Arends, Mark J.; Miro, Xavier; White, Jacqueline K.; Desir, Julie; Abramowicz, Marc; Dentici, Maria Lisa; Lepri, Francesca; Hofmann, Kay; Har-Zahav, Adi; Ryder, Edward; Karp, Natasha A.; Estabel, Jeanne; Gerdin, Anna-Karin B.; Podrini, Christine; Ingham, Neil J.; Altmueller, Janine; Nuernberg, Gudrun; Frommolt, Peter; Abdelhak, Sonia; Pasmanik-Chor, Metsada; Konen, Osnat; Kelley, Richard I.; Shohat, Mordechai; Nuernberg, Peter; Flint, Jonathan; Steel, Karen P.; Hoppe, Thorsten; Kubisch, Christian; Adams, David J.; Borck, Guntram 分享 收藏 elF2γ Mutation that Disrupts elF2 Complex Integrity Links Intellectual Disability to Impaired Translation InitiationBorck, Guntram; Shin, Byung-Sik; Stiller, Barbara; Mimouni-Bloch, Aviva; Thiele, Holger; Kim, Joo-Ran; Thakur, Meghna; Skinner, Cindy; Aschenbach, Lara; Smirin-Yosef, Pola; Har-Zahav, Adi; Nuernberg, Gudrun; Altmueller, Janine; Frommolt, Peter; Hofmann, Kay; Konen, Osnat; Nuernberg, Peter; Munnich, Arnold; Schwartz, Charles E.; Gothelf, Doron; Colleaux, Laurence; Dever, Thomas E.; Kubisch, Christian; Basel-Vanagaite, Lina 分享 收藏 分享 收藏 分享 收藏 
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