Kết quả tìm kiếm - Hadas Ityel

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  1. 1
    A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency

    A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency Bằng Inbal Lasry, Young Ah Seo, Hadas Ityel, Nechama Shalva, Ben Pode‐Shakked, Fabian Glaser, Bluma Berman, Igor N. Berezovsky, Alexander Goncearenco, Aharon Klar, Jacob Levy, Yair Anikster, Shannon L. Kelleher, Yehuda G. Assaraf

    Được phát hành 2012
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    Artigo
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  2. 2
    A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

    A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling Bằng Asaf Vivante, Nina Mann, Hagith Yonath, Anna-Carina Weiss, Maike Getwan, Michael M. Kaminski, Tobias Bohnenpoll, Catherine Teyssier, Jing Chen, Shirlee Shril, Amelie T. van der Ven, Hadas Ityel, Johanna Magdalena Schmidt, Eugen Widmeier, Stuart B. Bauer, Simone Sanna‐Cherchi, Ali G. Gharavi, Lu W, Daniella Magen, Rachel Shukrun, Richard P. Lifton, Velibor Tasić, Horia Stanescu, Vincent Cavaillès, Robert Kleta, Yair Anikster, Benjamin Dekel, Andreas Kispert, Soeren S. Lienkamp, Friedhelm Hildebrandt

    Được phát hành 2017
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    Artigo
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  3. 3
    Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

    Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients Bằng Nina Mann, Daniela A. Braun, Kassaundra Amann, Weizhen Tan, Shirlee Shril, Dervla M. Connaughton, Makiko Nakayama, Ronen Schneider, Thomas M. Kitzler, Amelie T. van der Ven, Jing Chen, Hadas Ityel, Asaf Vivante, Amar J. Majmundar, Ankana Daga, Jillian K. Warejko, Svjetlana Lovric, Shazia Ashraf, Tilman Jobst‐Schwan, Eugen Widmeier, Hannah Hugo, Shrikant Mane, Leslie Spaneas, Michael J.G. Somers, Michael A. Ferguson, Avram Z. Traum, Deborah R. Stein, Michelle A. Baum, Ghaleb H. Daouk, Richard P. Lifton, Shannon Manzi, Khashayar Vakili, Heung Bae Kim, Nancy Rodig, Friedhelm Hildebrandt

    Được phát hành 2019
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    Artigo
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  4. 4
    Monogenic causes of chronic kidney disease in adults

    Monogenic causes of chronic kidney disease in adults Bằng Dervla M. Connaughton, Claire Kennedy, Shirlee Shril, Nina Mann, Susan Murray, Patrick A. Williams, Eoin Conlon, Makiko Nakayama, Amelie T. van der Ven, Hadas Ityel, Franziska Kause, Caroline M. Kolvenbach, Rufeng Dai, Asaf Vivante, Daniela A. Braun, Ronen Schneider, Thomas M. Kitzler, Bróna Moloney, Conor Moran, J. Smyth, Alan Kennedy, Katherine A. Benson, Caragh P. Stapleton, Mark Denton, Colm Magee, Conall M. O’Seaghdha, William D. Plant, Matthew D. Griffin, Atif Awan, Clodagh Sweeney, Shrikant Mane, Richard P. Lifton, Brenda Walker Griffin, Sean F. Leavey, Liam Casserly, D.G. de Freitas, John Holian, Anthony Dorman, Brendan Doyle, Peter Lavin, Mark A. Little, Peter J. Conlon, Friedhelm Hildebrandt

    Được phát hành 2019
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    Artigo
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  5. 5
    Paralog Studies Augment Gene Discovery: DDX and DHX Genes

    Paralog Studies Augment Gene Discovery: DDX and DHX Genes Bằng Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski, Shalini N. Jhangiani, Sarah Rosenheck, Robert Kleyner, Taylor Marmorale, Margaret S. Yoon, Kai Wang, Reid Robison, Gerarda Cappuccio, Michele Pinelli, Adriano Magli, Zeynep Coban‐Akdemir, Joannie Hui, Wai Lan Yeung, Bibiana K. Y. Wong, Lucia Ortega, Mir Reza Bekheirnia, Tatjana Bierhals, Maja Hempel, Jessika Johannsen, René Santer, Dilek Aktaş, Mehmet Alikaşifoĝlu, Sevcan Tuğ Bozdoğan, Hatip Aydın, Ender Karaca, Yavuz Bayram, Hadas Ityel, Michael O. Dorschner, Janson J. White, Ekkehard Wilichowski, Saskia B. Wortmann, Erasmo Barbante Casella, João Paulo Kitajima, Fernando Kok, Fabíola Paoli Monteiro, Donna M. Muzny, Michael J. Bamshad, Richard A. Gibbs, V. Reid Sutton, Hilde Van Esch, Nicola Brunetti‐Pierri, Friedhelm Hildebrandt, Ariel Brautbar, Ignatia B. Van den Veyver, Ian Glass, Davor Lessel, Gholson J. Lyon, James R. Lupski

    Được phát hành 2019
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    Artigo
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  6. 6
    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome Bằng Jillian K. Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A. Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst‐Schwan, Eugen Widmeier, Amar J. Majmundar, Ronen Schneider, Heon Yung Gee, Johanna Magdalena Schmidt, Asaf Vivante, Amelie T. van der Ven, Hadas Ityel, Jing Chen, Carolin E. Sadowski, Stefan Kohl, Werner L. Pabst, Makiko Nakayama, Michael J.G. Somers, Nancy Rodig, Ghaleb H. Daouk, Michelle A. Baum, Deborah R. Stein, Michael A. Ferguson, Avram Z. Traum, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan Fathy, Martin Zenker, Sevcan A. Bakkaloğlu, Dominik Müller, Aytül Noyan, Fatih Özaltın, Melissa A. Cadnapaphornchai, Seema Hashmi, Jeffrey Hopcian, Jeffrey B. Kopp, Nadine Benador, Detlef Böckenhauer, Radovan Bogdanović, Nataša Stajić, Gil Chernin, Robert B. Ettenger, Henry Fehrenbach, Markus J. Kemper, Reyner Loza Munárriz, Ľudmila Podracká, Rainer Büscher, Erkin Serdaroğlu, Velibor Tasić, Shrikant Mane, Richard P. Lifton, Daniela A. Braun, Friedhelm Hildebrandt

    Được phát hành 2017
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    Artigo
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  7. 7
    Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

    Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract Bằng Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, Nina Mann, Makiko Nakayama, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Julian Schulz, Daniela A. Braun, Johanna Magdalena Schmidt, David Schapiro, Ronen Schneider, Jillian K. Warejko, Ankana Daga, Amar J. Majmundar, Weizhen Tan, Tilman Jobst‐Schwan, Tobias Hermle, Eugen Widmeier, Shazia Ashraf, Ali Amar, Charlotte A. Hoogstraaten, Hannah Hugo, Thomas M. Kitzler, Franziska Kause, Caroline M. Kolvenbach, Rufeng Dai, Leslie Spaneas, Kassaundra Amann, Deborah R. Stein, Michelle A. Baum, Michael J.G. Somers, Nancy Rodig, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Radovan Bogdanović, Nataša Stajić, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan Fathy, Danko Milošević, Muna Al‐Saffar, Hazem S. Awad, Loai Eid, Aravind Selvin, Prabha Senguttuvan, Simone Sanna‐Cherchi, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Michael W. Wilson, Shrikant Mane, Richard P. Lifton, Richard S. Lee, Stuart B. Bauer, Lu W, Heiko Reutter, Velibor Tasić, Shirlee Shril, Friedhelm Hildebrandt

    Được phát hành 2018
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    Artigo
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  8. 8
    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Bằng Dervla M. Connaughton, Rufeng Dai, Danielle Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Étienne Coyaud, Estelle Laurent, Jonathan St‐Germain, Lot Snijders Blok, Arianna Vino, Verena Klämbt, Konstantin Deutsch, Chen-Han Wilfred Wu, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Ronen Schneider, Thomas M. Kitzler, Amar J. Majmundar, Florian Buerger, Ana C. Onuchic-Whitford, Youying Mao, Amy Kolb, Daanya Salmanullah, Evan Chen, Amelie T. van der Ven, Jia Rao, Hadas Ityel, Steve Seltzsam, Johanna M. Rieke, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Gabriel C. Dworschak, Tobias Hermle, Mariëlle Alders, Tobias Bartolomaeus, Stuart B. Bauer, Michelle A. Baum, Eva H. Brilstra, Thomas D. Challman, Jacob Zyskind, Carrie E. Costin, Katrina M. Dipple, Floor A.M. Duijkers, Marcia Ferguson, David Fitzpatrick, Roger Fick, Ian Glass, Peter J. Hulick, Antonie D. Kline, Ilona Krey, Selvin Kumar, Lu W, Elysa J. Marco, Ingrid M. Wentzensen, Heather C. Mefford, Konrad Platzer, Inna Povolotskaya, Juliann M. Savatt, Н. В. Щербакова, Prabha Senguttuvan, Audrey Squire, Deborah R. Stein, Isabelle Thiffault, V. Yu. Voinova, Michael J. Somers, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Ankana Daga, Nancy Rodig, Paulien A. Terhal, Ellen van Binsbergen, Loai Eid, Velibor Tasić, Hila Milo Rasouly, Tze Y. Lim, Dina Ahram, Ali G. Gharavi, Heiko Reutter, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Richard P. Lifton, Hong Xu, Shrikant Mane, Simone Sanna‐Cherchi, Andrew D. Sharrocks, Brian Raught, Simon E. Fisher, Maxime Bouchard, Mustafa K. Khokha, Shirlee Shril, Friedhelm Hildebrandt

    Được phát hành 2020
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    Artigo
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