检索结果 - Dorit Lev
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Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination 由 Daniela López-Espíndola, Carmen Morales-Bastos, Carmen Grijota-Martínez, Xiao-Hui Liao, Dorit Lev, Ella Sugo, Charles F. Verge, Samuel Refetoff, Juan Bernal, Ana Guadaño‐Ferraz
出版 2014Artigo -
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Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abn... 由 Ghayda Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman‐Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham, William B. Dobyns
出版 2012Artigo -
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Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy 由 Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina Fine, Dan Su, Ginat Narkis, Rivka Ofir, Chen Hoffmann, Esther Leshinsky‐Silver, Hagit Flusser, Sara Sivan, Dieter Söll, Tally Lerman‐Sagie, Ohad S. Birk
出版 2010Artigo -
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Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome 由 Liangliang Wang, Anu Gannavarapu, Claudia A. Kozinetz, Moise L. Levy, Richard A. Lewis, Murali Chintagumpala, R. Ruiz-Maldanado, José Contreras‐Ruiz, Christopher Cunniff, Robert P. Erickson, Dorit Lev, Maureen Rogers, Elaine H. Zackai, Sharon E. Plon
出版 2003Artigo -
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Prediction of microcephaly at birth using three reference ranges for fetal head circumference: can we improve prenatal diagnosis? 由 Z. Leibovitz, Etty Daniel‐Spiegel, G. Malinger, Karina Krajden Haratz, M. Tamarkin, L. Gindes, Letizia Schreiber, Liat Ben‐Sira, Dorit Lev, I. Shapiro, H. Bakry, B. Weizman, A. Zreik, S. Egenburg, Ayala Arad, R. Tepper, Debora Kidron, Tally Lerman‐Sagie
出版 2015Artigo -
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<i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders 由 Chihiro Ohba, Masaaki Shiina, Jun Tohyama, Kazuhiro Haginoya, Tally Lerman‐Sagie, Nobuhiko Okamoto, Lubov Blumkin, Dorit Lev, Souichi Mukaida, Fumihito Nozaki, Mitsugu Uematsu, Akira Onuma, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Mitsuhiro Kato, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto
出版 2015Artigo -
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Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus 由 Robyn H. Wallace, Ingrid E. Scheffer, Shaun Barnett, M. Richards, Leanne M. Dibbens, R. Desai, Tally Lerman‐Sagie, Dorit Lev, Aziz Mazarib, Nathan Brand, Bruria Ben‐Zeev, Igor Goikhman, Rita Singh, Gabriel Kremmidiotis, Alison Gardner, G.R. Sutherland, Alfred L. George, John C. Mulley, Samuel F. Berkovic
出版 2001Artigo -
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Central 22q11.2 deletions 由 Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts
出版 2014Artigo -
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Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families 由 Zippora Brownstein, Lilach M. Friedman, Hashem Shahin, Varda Oron‐Karni, Nitzan Kol, Amal Abu Rayyan, Thomas Parzefall, Dorit Lev, Stavit A. Shalev, Moshe Frydman, Bella Davidov, Mordechai Shohat, Michele Rahile, Sari Lieberman, Ephrat Levy‐Lahad, Ming K. Lee, Noam Shomron, Mary‐Claire King, Tom Walsh, Moien Kanaan, Karen B. Avraham
出版 2011Artigo -
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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy 由 Sahar Esmaeeli Nieh, Maura R.Z. Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Katrina W. Lexa, Jonathan B. Strober, Christine G. Spaeth, Barbara Hallinan, Nizar Smaoui, John Pappas, Thomas Andrew Burrow, Marie McDonald, Mariam Latibashvili, Esther Leshinsky‐Silver, Dorit Lev, Luba Blumkin, Ronald D. Vale, A. James Barkovich, Elliott H. Sherr
出版 2015Artigo -
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Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy 由 Hirofumi Kodera, Mitsuhiro Kato, Alex S. Nord, Tom Walsh, Ming Lee, Gaku Yamanaka, Jun Tohyama, Kazuyuki Nakamura, Eiji Nakagawa, Tae Ikeda, Bruria Ben‐Zeev, Dorit Lev, Tally Lerman‐Sagie, Rachel Straussberg, Saori Tanabe, Kazutoshi Ueda, Masano Amamoto, Sayaka Ohta, Yutaka Nonoda, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Kiyoshi Hayasaka, Mary‐Claire King, Naomichi Matsumoto, Hirotomo Saitsu
出版 2013Artigo
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