Resultats de la cerca - Ortal Barel

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  1. 1
    Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

    Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ per Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis, Gal Finer, Hanah Shalev, A El Nasasra, Ann Saada, Ohad S. Birk

    Publicat 2008
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  2. 2
    Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

    Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9 per Ortal Barel, Stavit A. Shalev, Rivka Ofir, Asi Cohen, Joël Zlotogora, Zamir Shorer, Galia Mazor, Gal Finer, Shareef Khateeb, Noam Zilberberg, Ohad S. Birk

    Publicat 2008
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  3. 3
    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families per Lior Greenbaum, Ben Pode‐Shakked, Shlomit Eisenberg‐Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik‐Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli‐Avella, Peter Bauer, Miriam Regev, Annick Raas‐Rothschild, Elon Pras, Michal Berkenstadt

    Publicat 2019
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  4. 4
    Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

    Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations per Joshi Stephen, Thierry Vilboux, Yael Haberman, Hadass Pri‐Chen, Ben Pode‐Shakked, Sina Mazaheri, Dina Marek‐Yagel, Ortal Barel, Ayelet Di Segni, Eran Eyal, Goni Hout‐Siloni, Avishay Lahad, Tzippora Shalem, Gideon Rechavi, May Christine V. Malicdan, Batia Weiss, William A. Gahl, Yair Anikster

    Publicat 2016
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  5. 5
    Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in <i>ARPC1B</i>

    Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in <i>ARPC1B</i> per Raz Somech, Atar Lev, Yu Nee Lee, Amos J. Simon, Ortal Barel, Ginette Schiby, Camila Avivi, Iris Barshack, Michele Rhodes, Jiejing Yin, Minshi Wang, Yibin Yang, Jennifer Rhodes, Nufar Marcus, Ben-Zion Garty, Jerry Stein, Ninette Amariglio, Gideon Rechavi, David L. Wiest, Yong Zhang

    Publicat 2017
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  6. 6
    Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

    Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies per Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode‐Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante

    Publicat 2019
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  7. 7
    Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects

    Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects per Amos J. Simon, Atar Lev, Yong Zhang, Batia Weiss, Anna Rylova, Eran Eyal, Nitzan Kol, Ortal Barel, Keren Cesarkas, Michalle Soudack, Noa Greenberg‐Kushnir, Michele Rhodes, David L. Wiest, Ginette Schiby, Iris Barshack, Shulamit Katz, Elon Pras, Hana Poran, Haike Reznik‐Wolf, Elena Ribakovsky, Carlos Simón, Wadi Hazou, Yechezkel Sidi, Avishay Lahad, Hagar Katzir, Shira Sagie, Haifa A. Aqeilan, Galina Glousker, Ninette Amariglio, Yehuda Tzfati, Sara Selig, Gideon Rechavi, Raz Somech

    Publicat 2016
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  8. 8
    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy per Ortal Barel, May Christine V. Malicdan, Bruria Ben‐Zeev, Judith Kandel, Hadass Pri‐Chen, Joshi Stephen, Inês Gomes Castro, Jeremy Metz, Osama Atawa, Sharon Moshkovitz, Esther Ganelin, Iris Barshack, Sylvie Polak‐Charcon, Dvora Nass, Dina Marek‐Yagel, Ninette Amariglio, Nechama Shalva, Thierry Vilboux, Carlos R. Ferreira, Ben Pode‐Shakked, Gali Heimer, Chen Hoffmann, Tal Yardeni, Andreea Nissenkorn, Camila Avivi, Eran Eyal, Nitzan Kol, Efrat G. Saar, Douglas C. Wallace, William A. Gahl, Gideon Rechavi, Michael Schrader, David M. Eckmann, Yair Anikster

    Publicat 2017
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  9. 9
    Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability

    Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability per Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R. Fassad, Sarah Mackenzie, Christopher M. Watson, Sebastian Valenzuela, Xie Xie, Katja E. Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Joanna Poulton, Héctor García‐Moreno, Paola Giunti, Carlos Alberto de Moura Aschoff, Jonas Alex Morales Saute, Amelia Jeanne Kirby, Camilo Toro, Lynne A. Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S. Gorman, Andrew M. Schaefer, Claes M. Gustafsson, Robert W. Taylor, Maria Falkenberg, Thomas J. Nicholls

    Publicat 2023
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  10. 10
    Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

    Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy per Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode‐Shakked, Dina Marek‐Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A. Grzeschik, Jürgen G. Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov‐Raz, Ana C. Messias, Caterina Terrile, Iris Barshack, Alexander Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias C. Braunisch, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Tobias B. Haack, Bianca J.J.M. Brundel, Dorothea Haas, Ody C.M. Sibon, Yair Anikster

    Publicat 2018
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  11. 11
    Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

    Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome per Caspar I. van der Made, Simone Kersten, Odelia Chorin, Karin R. Engelhardt, Gayatri Ramakrishnan, Helen Griffin, Ina Schim van der Loeff, Hanka Venselaar, Annick Raas Rothschild, Meirav Segev, Janneke Schuurs-Hoeijmakers, Tuomo Mantere, Rick Essers, Masoud Zamani Esteki, A. Avital, Peh Sun Loo, Annet Simons, Rolph Pfundt, Adilia Warris, Marieke M.B. Seyger, Frank L. van de Veerdonk, Mihai G. Netea, Mary Slatter, Terry Flood, Andrew R. Gennery, Amos J. Simon, Atar Lev, Shirley Frizinsky, Ortal Barel, Mirjam van der Burg, Raz Somech, Sophie Hambleton, Stefanie Henriet, Alexander Hoischen

    Publicat 2024
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  12. 12
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders per Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers

    Publicat 2018
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  13. 13
    Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

    Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants per Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brünger, Tobias, Hedrich, Ulrike B.S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne

    Publicat 2022
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  14. 14
    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling per Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T. Pagnamenta, Reza Maroofian, Christian Beetz, H. van Duyvenvoorde, Maria Lisa Dentici, Peter Lauffer, Sadeq Vallian, Andrea Ciolfi, Simone Pizzi, Peter Bauer, Nana‐Maria Grüning, Emanuele Bellacchio, Andrea Del Fattore, Stefania Petrini, Ranad Shaheen, Dov Tiosano, Rana Halloun, Ben Pode‐Shakked, Hatice Mutlu Albayrak, Emregül Işık, Jan M. Wit, Marcus Dittrich, Bruna Lucheze Freire, Débora Romeo Bertola, Alexander A.L. Jorge, Ortal Barel, Ataf Sabir, Amal M.J. Al Tenaiji, Sulaima Mhd Taji, Nouriya Al‐Sannaa, Hind Y. Al-Abdulwahed, M. Cristina Digilio, Melita Irving, Yair Anikster, Gandham SriLakshmi Bhavani, Katta M. Girisha, Thomas Haaf, Jenny C. Taylor, Bruno Dallapiccola, Fowzan S. Alkuraya, Ruey‐Bing Yang, Marco Tartaglia

    Publicat 2020
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  15. 15
    Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

    Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy per Sarah L. Stenton, Н Л Шеремет, Claudia B. Catarino, N.A. Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria Lucia Cascavilla, Peter Charbel Issa, Peter Freisinger, S. Gerber, Daniele Ghezzi, Elisabeth Graf, Juliana Heidler, Maja Hempel, Elise Héon, Y.S. Itkis, Elisheva Javasky, Josseline Kaplan, Robert Kopajtich, Cornelia Kornblum, Réka Kovács-Nagy, Tatiana Krylova, Wolfram S. Kunz, Chiara La Morgia, Costanza Lamperti, Christina Ludwig, Pedro Felipe Malacarne, Alessandra Maresca, Johannes A. Mayr, Jana Meisterknecht, Tatiana A. Nevinitsyna, Flavia Palombo, Ben Pode‐Shakked, M.S. Shmelkova, Tim M. Strom, Francesca Tagliavini, Michal Tzadok, Amelie T. van der Ven, Catherine Vignal, Matias Wagner, Ekaterina Zakharova, N.V. Zhorzholadze, Jean‐Michel Rozet, Valério Carelli, Polina G. Tsygankova, Thomas Klopstock, Ilka Wittig, Holger Prokisch

    Publicat 2021
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  16. 16
    Helper T cell immunity in humans with inherited CD4 deficiency

    Helper T cell immunity in humans with inherited CD4 deficiency per Antoine Guérin, Marcela Moncada‐Vélez, Katherine Jackson, Masato Ogishi, Jérémie Rosain, Mathieu Mancini, David Langlais, Andrea C. Nunez, Samantha Webster, Jesse Goyette, Taushif Khan, Nico Marr, Danielle T. Avery, Geetha Rao, Tim Waterboer, Birgitta E. Michels, Esmeralda Neves, Cátia Iracema Morais, Jonathan London, S. Mestrallet, Pierre Quartier, Bénédicte Neven, Franck Rapaport, Yoann Seeleuthner, Atar Lev, Amos J. Simon, Jorge Montoya, Ortal Barel, Julio Gómez‐Rodríguez, Julio C. Orrego, Anne-Sophie L’Honneur, Camille Soudée, Jessica Lineth Rojas, Alejandra Vélez, Irini Sereti, Benjamin Terrier, Nancy D. Marín, Luis F. García, Laurent Abel, Stéphanie Boisson‐Dupuis, Joel Reis, António Marinho, Andrea Lisco, Emília Faria, Christopher C. Goodnow, Julia Vasconcelos, Vivien Béziat, S. Cindy, Raz Somech, Jean‐Laurent Casanova, Jacinta Bustamante, José Luis Franco, Stuart G. Tangye

    Publicat 2024
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  17. 17
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome per Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    Publicat 2022
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