Výsledky vyhledávání - Deborah R. Stein

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  1. 1
    Midaortic syndrome: 30 years of experience with medical, endovascular and surgical management

    Midaortic syndrome: 30 years of experience with medical, endovascular and surgical management Autor Diego Porras, Deborah R. Stein, Michael A. Ferguson, Gulraiz Chaudry, Ahmad I. Alomari, Khashayar Vakili, Steven J. Fishman, James E. Lock, Heung B. Kim

    Vydáno 2013
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  2. 2
    Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system)

    Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system) Autor Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne S. Chow, Beverly G. Coleman, Christopher S. Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony Odibo, Michaël Somers, Deborah R. Stein

    Vydáno 2014
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  3. 3
    Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

    Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis Autor Daniela A. Braun, Jennifer A. Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jennifer D. Varner, John A. Sayer, Danko Milošević, Michelle A. Baum, Velibor Tasić, Friedhelm Hildebrandt

    Vydáno 2016
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  4. 4
    Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center

    Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center Autor Weizhen Tan, Svjetlana Lovric, Shazia Ashraf, Jia Rao, David Schapiro, Merlin Airik, Shirlee Shril, Heon Yung Gee, Michelle A. Baum, Ghaleb H. Daouk, Michael A. Ferguson, Nancy Rodig, Michael J.G. Somers, Deborah R. Stein, Asaf Vivante, Jillian K. Warejko, Eugen Widmeier, Friedhelm Hildebrandt

    Vydáno 2017
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  5. 5
    Mutations in SLC26A1 Cause Nephrolithiasis

    Mutations in SLC26A1 Cause Nephrolithiasis Autor Heon Yung Gee, Ikhyun Jun, Daniela A. Braun, Jennifer A. Lawson, Jan Halbritter, Shirlee Shril, Caleb P. Nelson, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, John A. Sayer, Danko Milošević, Michelle A. Baum, Velibor Tasić, Min Goo Lee, Friedhelm Hildebrandt

    Vydáno 2016
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  6. 6
    Expansion of phenotype and genotypic data in CRB2-related syndrome

    Expansion of phenotype and genotypic data in CRB2-related syndrome Autor Ryan E. Lamont, Wen‐Hann Tan, A. Micheil Innes, Jillian S. Parboosingh, Dina Schneidman‐Duhovny, Aleksandar Rajkovic, John Pappas, Pablo Altschwager, Stephanie J. DeWard, Anne B. Fulton, Kathryn J. Gray, Max Krall, Lakshmi Mehta, Lance H. Rodan, Devereux N. Saller, Deanna Steele, Deborah R. Stein, Svetlana A. Yatsenko, François Bernier, Anne Slavotinek

    Vydáno 2016
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  7. 7
    Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

    Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity Autor Daniela A. Braun, Markus Schueler, Jan Halbritter, Heon Yung Gee, Jonathan D. Porath, Jennifer A. Lawson, Rannar Airik, Shirlee Shril, Susan J. Allen, Deborah R. Stein, Adila Al Kindy, Bodo B. Beck, Nurcan Cengız, Khemchand N Moorani, Fatih Özaltın, Seema Hashmi, John A. Sayer, Detlef Böckenhauer, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Friedhelm Hildebrandt

    Vydáno 2015
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  8. 8
    Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

    Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients Autor 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

    Vydáno 2019
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  9. 9
    Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

    Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis Autor Ankana Daga, Amar J. Majmundar, Daniela A. Braun, Heon Yung Gee, Jennifer A. Lawson, Shirlee Shril, Tilman Jobst‐Schwan, Asaf Vivante, David Schapiro, Weizhen Tan, Jillian K. Warejko, Eugen Widmeier, Caleb P. Nelson, Hanan Fathy, Zoran Gucev, Neveen A. Soliman, Seema Hashmi, Jan Halbritter, Margarita Halty, Jameela A. Kari, Sherif M. El-Desoky, Michael A. Ferguson, Michael J.G. Somers, Avram Z. Traum, Deborah R. Stein, Ghaleb H. Daouk, Nancy Rodig, A. Katz, Christian Hanna, Andrew L. Schwaderer, John A. Sayer, Ari J. Wassner, Shrikant Mane, Richard P. Lifton, Danko Milošević, Velibor Tasić, Michelle A. Baum, Friedhelm Hildebrandt

    Vydáno 2017
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  10. 10
    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome Autor 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

    Vydáno 2017
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  11. 11
    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 Autor 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

    Vydáno 2018
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  12. 12
    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Autor 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

    Vydáno 2020
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