Kết quả tìm kiếm - Bruria Ben Zeev
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Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders Bằng Sandesh C.S. Nagamani, Ayelet Erez, Bruria Ben‐Zeev, Moshe Frydman, Susan Winter, Robert S. Zeller, Dima El‐Khechen, Luis Escobar, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung
Được phát hành 2012Artigo -
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Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation Bằng Tomer Poleg, Noam Hadar, Gali Heimer, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan M. Jean, Ofek Freund, Simran Kaur, John Christodoulou, Bruria Ben Zeev, Ohad S. Birk
Được phát hành 2025Artigo -
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CBD-enriched medical cannabis for intractable pediatric epilepsy Bằng Michal Tzadok, Shimrit Uliel-Siboni, Ilan Linder, Uri Kramer, Orna Epstein, Shay Menascu, Andrea Nissenkorn, Omer Bar Yosef, Eli Hyman, Dorit Granot, Michael Dor, T. Lerman‐Sagie, Bruria Ben‐Zeev
Được phát hành 2016Artigo -
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Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex Bằng Rami Kaufmann, Rachel Straussberg, Hanna Mandel, Aviva Fattal‐Valevski, Bruria Ben‐Zeev, Adi Naamati, Avraham Shaag, Shamir Zenvirt, Osnat Konen, Aviva Mimouni-Bloch, William B. Dobyns, Simon Edvardson, Ophry Pines, Orly Elpeleg
Được phát hành 2010Artigo -
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Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy Bằng 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
Được phát hành 2010Artigo -
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CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy Bằng Yoram Nevo, Bruria Ben‐Zeev, Adi Tabib, Rachel Straussberg, Yair Anikster, Zamir Shorer, Aviva Fattal‐Valevski, Asaf Ta‐Shma, Sharon Aharoni, Malcolm Rabie, Shamir Zenvirt, Hanoch Goldshmidt, Yakov Fellig, Avraham Shaag, Dror Mevorach, Orly Elpeleg
Được phát hành 2012Artigo -
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TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export Bằng Daniela Stadel, Valentina Millarte, Kerstin D. Tillmann, Jessica Huber, Bat-Chen Tamin-Yecheskel, Masato Akutsu, Alik Demishtein, Bruria Ben‐Zeev, Yair Anikster, Franck Perez, Volker Dötsch, Zvulun Elazar, Vladimir V. Rogov, Hesso Farhan, Christian Behrends
Được phát hành 2015Artigo -
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KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function Bằng Markus Reichold, Anselm A. Zdebik, Evelyn Lieberer, Markus Rapedius, Katharina Schmidt, Sascha Bandulik, Christina Sterner, Ines Tegtmeier, David Pentón, Thomas Baukrowitz, Sally‐Anne Hulton, Ralph Witzgall, Bruria Ben‐Zeev, Alexander J. Howie, Robert Kleta, Detlef Böckenhauer, Richard Warth
Được phát hành 2010Artigo -
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Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay Bằng Hirotomo Saitsu, Ryoko Fukai, Bruria Ben‐Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saitō, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
Được phát hành 2015Artigo -
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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis Bằng Danit Oz-Levi, Bruria Ben‐Zeev, Elizabeth K. Ruzzo, Yuki Hitomi, Amir Gelman, Kimberly Pelak, Yair Anikster, Haike Reznik‐Wolf, Ifat Bar-Joseph, Tsviya Olender, Anna Alkelai, Meira Weiss, Edna Ben‐Asher, Dongliang Ge, Kevin V. Shianna, Zvulun Elazar, David B. Goldstein, Elon Pras, Doron Lancet
Được phát hành 2012Artigo -
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Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus Bằng 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
Được phát hành 2001Artigo -
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Neonatal nonepileptic myoclonus is a prominent clinical feature of <i><scp>KCNQ</scp>2</i> gain‐of‐function variants R201C and R201H Bằng Sarah B. Mulkey, Bruria Ben‐Zeev, Joost Nicolai, John L. Carroll, Sabine Grønborg, Yong‐Hui Jiang, Nishtha Joshi, Megan L. Kelly, David A. Koolen, Mohamad A. Mikati, Kristen Park, Phillip L. Pearl, Ingrid E. Scheffer, Rebecca C. Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C. Cooper, Maria Roberta Cilio
Được phát hành 2017Artigo -
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Rare copy number variants are an important cause of epileptic encephalopathies Bằng Heather C. Mefford, Simone C. Yendle, Cynthia L. Hsu, Joseph Cook, Eileen Geraghty, Jacinta M. McMahon, Orvar Eeg‐Olofsson, Lynette G. Sadleir, Deepak Gill, Bruria Ben‐Zeev, Tally Lerman‐Sagie, Mark T. Mackay, Jeremy L. Freeman, Eva Andermann, James T. Pelakanos, Ian Andrews, Geoffrey Wallace, Evan E. Eichler, Samuel F. Berkovic, Ingrid E. Scheffer
Được phát hành 2011Artigo -
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Epilepsy in Rett syndrome—Lessons from the Rett networked database Bằng Andreea Nissenkorn, Rachel S. Levy‐Drummer, Ori Bondi, Alessandra Renieri, Laurent Villard, Francesca Mari, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Ilaria Meloni, Mercédes Pineda, Judith Armstrong, Angus Clarke, Nadia Bahi‐Buisson, Bosnjak Vlatka Mejaski, Milena Djurić, Dana Craiu, Alexsandra Djukic, Giorgio Pini, Anne‐Marie Bisgaard, Béla Melegh, Aglaia Vignoli, Silvia Russo, C. Anghelescu, Edvige Veneselli, Joussef Hayek, Bruria Ben Zeev
Được phát hành 2015Artigo
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Các môn học liên quan
Biology
Gene
Genetics
Medicine
Phenotype
Mutation
Epilepsy
Internal medicine
Neuroscience
Missense mutation
Pediatrics
Psychiatry
Psychology
Rett syndrome
Genotype
Biochemistry
Disease
MECP2
Allele
Anesthesia
Atrophy
Cell biology
Encephalopathy
Endocrinology
Environmental health
Genotype-phenotype distinction
Haploinsufficiency
Nonsense mutation
Pathology
Population