Výsledky vyhledávání - Hagit Baris

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  1. 1
    Non-immune Hemolysis in Gaucher Disease and Review of the Literature

    Non-immune Hemolysis in Gaucher Disease and Review of the Literature Autor Hershkop, Eliyakim, Bergman, Idan, Kurolap, Alina, Dally, Najib, Feldman, Hagit Baris

    Vydáno 2021
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  2. 2
    The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

    The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management Autor Wen‐Hann Tan, Hagit Baris, Patricia E. Burrows, Caroline D. Robson, Ahmad I. Alomari, John B. Mulliken, Steven J. Fishman, Mira Irons

    Vydáno 2007
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  3. 3
    Upper and Lower Gastrointestinal Findings in PTEN Mutation–Positive Cowden Syndrome Patients Participating in an Active Surveillance Program

    Upper and Lower Gastrointestinal Findings in PTEN Mutation–Positive Cowden Syndrome Patients Participating in an Active Surveillance Program Autor Zohar Levi, Hagit Baris, Inbal Kedar, Yaron Niv, Alex Geller, Eyal Gal, Rachel Gingold, Sara Morgenstern, Yacov Baruch, Brandie Heald, Mary P. Bronner, Charis Eng

    Vydáno 2011
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  4. 4
    Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping

    Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping Autor Sapir Margalit, Zuzana Tulpová, Tahir Detinis Zur, Yael Michaeli, Jasline Deek, Gil Nifker, Rita Haldar, Yehudit Gnatek, Dorit Omer, Benjamin Dekel, Hagit Baris Feldman, Assaf Grunwald, Yuval Ebenstein

    Vydáno 2025
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  5. 5
    Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies

    Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies Autor Yuval Yaron, Vered Ofen Glassner, Adi Mory, Noa Zunz Henig, Alina Kurolap, Anat Bar Shira, D. Brabbing Goldstein, Daphna Marom, Liat Ben‐Sira, Hagit Baris Feldman, G. Malinger, Karina Krajden Haratz, Adi Reches

    Vydáno 2022
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  6. 6
    Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

    Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group Autor Melyssa Aronson, Chrystelle Colas, Andrew Y. Shuen, Heather Hampel, William D. Foulkes, Hagit Baris Feldman, Yael Goldberg, Martine Muleris, Kami Wolfe Schneider, Rose B. McGee, Kory Jasperson, Arun Rangaswami, Laurence Brugières, Uri Tabori

    Vydáno 2021
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  7. 7
    Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with <scp>G</scp>aucher disease type 1: The phase 3 ENGAGE trial

    Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with <scp>G</scp>aucher disease type 1: The phase 3 ENGAGE trial Autor Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia, Suma P. Shankar, Hagit Baris, Marwan Ghosn, Atul Mehta, Seymour Packman, Gregory M. Pastores, Мilan Petakov, Sarit Assouline, Manisha Balwani, Sumita Danda, Evgueniy Hadjiev, Andres Ortega, Sebastiaan J.M. Gaemers, Regina Tayag, Michel Peterschmitt

    Vydáno 2017
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  8. 8
    Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

    Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency Autor Anlu Chen, Dov Tiosano, Tülay Güran, Hagit Baris, Yavuz Bayram, Adi Mory, Laura Shapiro-Kulnane, Craig A. Hodges, Zeynep Coban‐Akdemir, Serap Turan, Shalini N. Jhangiani, Focco van den Akker, Charles L. Hoppel, Helen K. Salz, James R. Lupski, David A. Buchner

    Vydáno 2018
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  9. 9
    VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

    VarElect: the phenotype-based variation prioritizer of the GeneCards Suite Autor Gil Stelzer, Inbar Plaschkes, Danit Oz-Levi, Anna Alkelai, Tsviya Olender, Shahar Zimmerman, Michal Twik, Frida Belinky, Simon Fishilevich, Ron Nudel, Yaron Guan‐Golan, David Warshawsky, Dvir Dahary, Asher Kohn, Yaron Mazor, Sergey Kaplan, Tsippi Iny Stein, Hagit Baris, Noa Rappaport, Marilyn Safran, Doron Lancet

    Vydáno 2016
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  10. 10
    Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy

    Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy Autor Alina Kurolap, Orly Eshach‐Adiv, Tova Hershkovitz, Tamar Paperna, Adi Mory, Danit Oz-Levi, Yaniv Zohar, Hanna Mandel, Judith Chezar, David Azoulay, Sarit Peleg, Elizabeth Half, Vered Yahalom, Lilach Finkel, Omer Weissbrod, Dan Geiger, Adi Tabib, Ron Shaoul, Daniella Magen, Lilach Bonstein, Dror Mevorach, Hagit Baris

    Vydáno 2017
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  11. 11
    Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

    Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1 Autor Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia, Dominick Amato, Hagit Baris, Majed Dasouki, Marwan Ghosn, Atul Mehta, Seymour Packman, Gregory M. Pastores, Мilan Petakov, Sarit Assouline, Manisha Balwani, Sumita Danda, Evgueniy Hadjiev, Andres Ortega, Suma P. Shankar, María Helena Solano, Leorah Ross, Jennifer Angell, Michel Peterschmitt

    Vydáno 2015
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  12. 12
    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) Autor Lonneke Haer‐Wigman, Horatio Hackett Newman, Rina Leibu, Nathalie M. Bax, Hagit Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J. Lefeber, Marijke N. Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I. den Hollander, Carel B. Hoyng, Frans P.M. Cremers, Tamar Ben‐Yosef

    Vydáno 2015
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  13. 13
    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction Autor Dov Tiosano, Hagit Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G. Gleeson, Patrick Rump, Hester van Meer, Deborah A. Sival, Volker Haucke, Josh Kriwinsky, Karl X. Knaup, André Reis, Nadine Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T. Thiel, Michael S. Wiesener, Mariam G. Aslanyan, David A. Buchner

    Vydáno 2019
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  14. 14
    Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder

    Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder Autor Chih‐Wei Chen, Hongling Wang, Ching-Wen Huang, Chang-Yu Huang, Wai Keong Lim, I-Chen Tu, Atmaja Koorapati, Sung‐Tsang Hsieh, Hung‐Wei Kan, Shiou‐Ru Tzeng, Jung‐Chi Liao, Weng Man Chong, Inna Naroditzky, Dvora Kidron, Ayelet Eran, Yousif Nijim, Ella Sela, Hagit Baris Feldman, Limor Kalfon, Hadas Raveh-Barak, Tzipora C. Falik‐Zaccai, Orly Elpeleg, Hanna Mandel, Zee-Fen Chang

    Vydáno 2018
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  15. 15
    Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

    Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1 Autor Pramod K. Mistry, Manisha Balwani, Hagit Baris, Hadhami Ben Turkia, T. Burrow, Joel Charrow, Gerald F. Cox, Sumita Danda, Marta Dragosky, Guillermo Drelichman, Amal El‐Beshlawy, Cristina Fraga, Selena Freisens, Sebastiaan J.M. Gaemers, Evgueniy Hadjiev, Priya S. Kishnani, Elena Lukina, Pierre Maison‐Blanche, Ana María Martins, Gregory M. Pastores, Мilan Petakov, Michel Peterschmitt, Hanna Rosenbaum, Barry E. Rosenbloom, Lisa H. Underhill, Timothy M. Cox

    Vydáno 2018
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  16. 16
    Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder

    Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder Autor Chen, Chih-Wei, Wang, Hong-Ling, Huang, Ching-Wen, Huang, Chang-Yu, Lim, Wai Keong, Tu, I-Chen, Koorapati, Atmaja, Hsieh, Sung-Tsang, Kan, Hung-Wei, Tzeng, Shiou-Ru, Liao, Jung-Chi, Chong, Weng Man, Naroditzky, Inna, Kidron, Dvora, Eran, Ayelet, Nijim, Yousif, Sela, Ella, Feldman, Hagit Baris, Kalfon, Limor, Raveh-Barak, Hadas, Falik-Zaccai, Tzipora C., Elpeleg, Orly, Mandel, Hanna, Chang, Zee-Fen

    Vydáno 2019
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  17. 17
    PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation

    PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation Autor Federico Gulluni, Lorenzo Prever, Huayi Li, Petra Krafčíková, Ilaria Corrado, Wen‐Ting Lo, Jean Piero Margaria, Anlu Chen, Maria Chiara De Santis, Sophie Cnudde, Joseph Fogerty, Alex Yuan, Alberto Massarotti, Nasrin Torabi Sarijalo, Oscar Vadas, Roger Williams, Marcus Thelen, D.R. Powell, Markus Schueler, Michael S. Wiesener, Tamás Balla, Hagit Baris, Dov Tiosano, Brian M. McDermott, Brian D. Perkins, Alessandra Ghigo, Miriam Martini, Volker Haucke, Evžen Bouřa, Giorgio R. Merlo, David A. Buchner, Emilio Hirsch

    Vydáno 2021
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  18. 18
    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects Autor Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kıvanç Çefle, Şükrü Palanduz, Şükrü Öztürk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly N. Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth A. Streeten, Raúl E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler, Junko Oshima

    Vydáno 2016
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  19. 19
    A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

    A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes Autor Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, Harsh Sheth, Christine Hayes, Stefan Aretz, Karin Dahan, William D. Foulkes, Christian P. Kratz, Tim Ripperger, Amedeo A. Azizi, Hagit Baris Feldman, Anne‐Laure Chong, Uğur Demırsoy, Benoît Florkin, Thomas Imschweiler, Danuta Januszkiewicz‐Lewandowska, Stephan Lobitz, Michaela Nathrath, Hans-Jürgen Pander, Vanesa Pérez‐Alonso, Claudia Perne, Iman Ragab, Thorsten Rosenbaum, Daniel Rueda, Markus G. Seidel, Manon Suerink, Julia Taeubner, Stefanie Zimmermann, Johannes Zschocke, Gillian M. Borthwick, John Burn, Michael S. Jackson, Mauro Santibanez‐Koref, Katharina Wimmer

    Vydáno 2019
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  20. 20
    Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study

    Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease:... Autor Ahmet Özen, Voranush Chongsrisawat, Asena Pınar Sefer, Burcu Kolukısa, Jessica J. Jalbert, Karoline A. Meagher, Taylor Brackin, Hagit Baris Feldman, Safa Barış, Elif Karakoç-Aydıner, Rabia Ergelen, Ivan J. Fuss, Heather Moorman, Narissara Suratannon, Kanya Suphapeetiporn, Lorah Perlee, Olivier Harari, George D. Yancopoulos, Michael J. Lenardo, Jutta Miller, Orly Eshach Adiv, Sevgi Bilgiç Eltan, Melek Yorgun Altunbaş, Mary Magliocco, Helen Matthews, Beatriz E. Marciano, Pantipa Chatchatee, Caryn F. Trbovic, Michael E. Burczynski, Umesh Chaudhari, Yusuf Usta, Cansu Altuntaş, Sibel Yavuz, Abdulkadir Baştürk, Fatma Demirbaş, Erdem Topal, Ayhan Gazi Kalaycı, Wanlapa Weerapakorn, A MARTINEZ, Adriana Bottero

    Vydáno 2024
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