Resultados da busca - Rachel Straussberg

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  1. 1
    A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function

    A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function por Inbal Lasry, Bluma Berman, Rachel Straussberg, Yael Sofer, Hanna Bessler, Mohamad Sharkia, Fabian Glaser, Gerrit Jansen, Stavit Drori, Yehuda G. Assaraf

    Publicado em 2008
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  2. 2
    DEGS1 variant causes neurological disorder

    DEGS1 variant causes neurological disorder por Vadim Dolgin, Rachel Straussberg, Ruijuan Xu, Izolda Mileva, Yuval Yogev, Raed Khoury, Osnat Konen, Yael Barhum, Alex Zvulunov, Cungui Mao, Ohad S. Birk

    Publicado em 2019
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  3. 3
    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly por Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel‐Vanagaite, Danielle Gleason, Robert Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

    Publicado em 2009
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  4. 4
    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21

    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 por Xianhua Piao, Lina Basel‐Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh

    Publicado em 2002
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  5. 5
    Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

    Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures por Sarah E. Heron, Kimberly H. Cox, Bronwyn E. Grinton, Sameer M. Zuberi, Sara Kivity, Zaid Afawi, Rachel Straussberg, Samuel F. Berkovic, Ingrid E. Scheffer, John C. Mulley

    Publicado em 2007
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  6. 6
    Infant Botulism, Israel, 2007–2021

    Infant Botulism, Israel, 2007–2021 por Bar Goldberg, Dganit Danino, Yoel Levinsky, Itzhak Levy, Rachel Straussberg, Halima Dabaja‐Younis, Alex Guri, Yotam Almagor, Diana Tasher, D. Elad, Zina Baider, Shlomo E. Blum, Oded Scheuerman

    Publicado em 2023
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  7. 7
    Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

    Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex por 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

    Publicado em 2010
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  8. 8
    CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

    CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy por 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

    Publicado em 2012
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  9. 9
    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures por Tiong Yang Tan, Jiří Sedmík, Mark P. Fitzgerald, Rivka Sukenik‐Halevy, Liam P. Keegan, Ingo Helbig, Lina Basel‐Salmon, Lior Cohen, Rachel Straussberg, Wendy K. Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B. Howell, Susan M. White, John Christodoulou, Mary A. O’Connell

    Publicado em 2020
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  10. 10
    The Adhesion G Protein-Coupled Receptor GPR56/ADGRG1 Is an Inhibitory Receptor on Human NK Cells

    The Adhesion G Protein-Coupled Receptor GPR56/ADGRG1 Is an Inhibitory Receptor on Human NK Cells por Gin-Wen Chang, Cheng‐Chih Hsiao, Yen-Ming Peng, Felipe A. Vieira Braga, Natasja A. M. Kragten, Ester B. M. Remmerswaal, Martijn D. B. van de Garde, Rachel Straussberg, Gabriele M. König, Evi Kostenis, Vera Knäuper, Linde Meyaard, René A. W. van Lier, Klaas P. J. M. van Gisbergen, Hsi-Hsien Lin, Jörg Hamann

    Publicado em 2016
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  11. 11
    Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

    Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy por 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

    Publicado em 2013
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  12. 12
    A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

    A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome por Alexander G. Bassuk, Robyn H. Wallace, Aimee C. Buhr, Andrew R. Buller, Zaid Afawi, Masahito Shimojo, Shingo Miyata, Shan Chen, Pedro Gonzalez‐Alegre, Hilary Griesbach, Shu Wu, Marcus Nashelsky, Eszter K. Vladar, Dragana Antic, Polly J. Ferguson, Sebahattin Çırak, Thomas Voït, Matthew P. Scott, Jeffrey D. Axelrod, Christina A. Gurnett, Azhar S. Daoud, Sara Kivity, Miriam Y. Neufeld, Aziz Mazarib, Rachel Straussberg, Simri Walid, Amos D. Korczyn, Diane C. Slusarski, Samuel F. Berkovic, Hatem El‐Shanti

    Publicado em 2008
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  13. 13
    Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

    Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1 por M. Renaud, Maria-Céu Moreira, B. Monga, Diana Rodriguez, Rabab Debs, Perrine Charles, Malika Chaouch, Farida Ferrat, Chloé Laurencin, Laurent Vercueil, Martial Mallaret, M’zahem Abderrahim, Lamia Ali Pacha, Mériem Tazir, Caroline Tilikete, Elisabeth Ollagnon, François Ochsner, Thierry Küntzer, Hans H. Jung, Jean-Marie Beis, J C Netter, Atbin Djamshidian, Mattew Bower, Armand Bottani, Richard A. Walsh, Sinéad M. Murphy, Thomas Reiley, Éric Bieth, Filip Roelens, Bwee Tien Poll‐The, Charles Marques Lourenço, Laura Bannach Jardim, Rachel Straussberg, P. Landrieu, Emmanuel Roze, Stéphane Thobois, Jean Pouget, Claire Guissart, Cyril Goizet, Alexandra Dürr, Christine Tranchant, Michel Kœnig, Mathieu Anheim

    Publicado em 2018
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  14. 14
    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy por Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, Karen Oliver, Snezana Maljevic, Marta A. Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E. Heron, Michael S. Hildebrand, Eva Andermann, Frédérick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E. Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betül Baykan, Edith Said, Meral Topçu, P. Riguzzi, Mary D. King, Çiğdem Özkara, Danielle M. Andrade, Bernt A. Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J. Espay, Brice Kauffmann, Michael Duchowny, Rikke S. Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben‐Zeev, Kaitlin E. Samocha, Mark J. Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki

    Publicado em 2014
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  15. 15
    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution por Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Steve Braddock, Leah W. Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna C. Saitta, Rachel Straussberg, Michael T. Gabbett, Bridget O’Connor, Catherine E. Keegan, Lim Jiin Yin, Angeline Lai, Nicole Martin, Margaret L. McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E. Schwartz, Agustina Lanöel, Robert L. Conway, Koenraad Devriendt, Katrina Tatton‐Brown, Mary Ella Pierpont, Michael J. Painter, Lisa Worgan, James D. Reggin, Raoul C. M. Hennekam, Karen D. Tsuchiya, Colin C. Pritchard, Mariana Aracena, Karen W. Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia J. Curry, Anne Goriely, Hülya Kayserilli, Jay Shendure, John M. Graham, Renzo Guerrini, William B. Dobyns

    Publicado em 2016
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  16. 16
    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 por Mark Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel T. Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron M. Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid M. Regan, Douglas E. Crompton, Anne‐Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin A. Smith, Alfredo Berardelli, Renée Carroll, Alison Gardner, Kathryn Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Édouard Hirsch, Eric LeGuern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A.J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gécz

    Publicado em 2019
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