檢索結果 - Lily Bazak
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Genome-wide analysis of Alu editability 由 Lily Bazak, Erez Y. Levanon, Eli Eisenberg
出版 2014Artigo -
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Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested 由 Lina Basel‐Vanagaite, Naama Orenstein, Keren Markus‐Bustani, Noa Ruhrman‐Shahar, Yael Kilim, Nurit Magal, Monika Weisz Hubshman, Lily Bazak
出版 2018Artigo -
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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability 由 Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A. Hills, Elles M. J. Boon, Lina Basel‐Salmon, Osnat Konen, Hadassa Goldberg‐Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T. Cho, Maria I. Scarano, G. Bradley Schaefer, Susan Sklower Brooks, Susan Hughes, Koen L.I. van Gassen, Johanna M. van Hagen, Tej K. Pandita, Pankaj B. Agrawal, Philippe M. Campeau, Xiang‐Jiao Yang
出版 2019Artigo -
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Genome-wide adaptive complexes to underground stresses in blind mole rats Spalax 由 Xiaodong Fang, Eviatar Nevo, Lijuan Han, Erez Y. Levanon, Jing Zhao, Aaron Avivi, Denis M. Larkin, Xuanting Jiang, Sergey Feranchuk, Yabing Zhu, Alla Fishman, Yue Feng, Noa Sher, Zhiqiang Xiong, Thomas Hankeln, Zhiyong Huang, Vera Gorbunova, Lu Zhang, Wei Zhao, Derek E. Wildman, Yingqi Xiong, Andrei V. Gudkov, Qiumei Zheng, Gideon Rechavi, Sanyang Liu, Lily Bazak, Jie Chen, Binyamin A. Knisbacher, Yao Lu, Imad Shams, Krzysztof Gajda, Marta Farré, Jaebum Kim, Harris A. Lewin, Jian Ma, Mark Band, Anne Bicker, Angela Kranz, Tobias Mattheus, Hanno Schmidt, Andrei Seluanov, Jorge Azpurua, Michael R. McGowen, Eshel Ben Jacob, Kexin Li, Shaoliang Peng, Xiaoqian Zhu, Xiangke Liao, Shuai Cheng Li, Anders Krogh, Xin Zhou, Leonid Brodsky, Jun Wang
出版 2014Artigo -
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Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature 由 Parisa Hemati, Anya Revah‐Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte G. Haug, Erin L. Heinzen, Tristan T. Sands, Vinodh Narayanan, Michelle Primiano, Vimla S. Aggarwal, Francisca Millan, Shannon G. Sattler‐Holtrop, Alfonso Caro‐Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y. Kroes, Stephanie Sacharow, Nicholas Stong, Pablo Lapunzina, Michael C. Schneider, Nancy J. Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monika Weisz Hubshman, Samantha Doyle, Alejandro Iglesias, Francisco Martı́nez, F. Ellis McKenzie, Carmen Orellana, Koen L.I. van Gassen, María Palomares‐Bralo, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel‐Vanagaite, Maria Hafström, Gunnar Houge, David B. Goldstein, Kwame Anyane‐Yeboa
出版 2018Revisão -
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 由 Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini
出版 2019Artigo
相關主題
Biology
Gene
Genetics
Gene expression
Genome
Medicine
Phenotype
RNA
RNA editing
Transcriptome
ADAR
Alu element
Bioinformatics
Cell biology
Computational biology
Exome
Exome sequencing
Exon
Human genome
Medical genetics
Mutation
Neuroscience
Acetylation
Adaptation (eye)
Adult stem cell
Apoptosis
CRISPR
Cancer
Carcinogenesis
Cardiorespiratory fitness