Torthaí cuardaigh - David Schapiro

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  1. 1
    Gaps Remain for Achieving HbA1c Targets for People with Type 1 or Type 2 Diabetes Using Insulin: Results from NHANES 2009–2020

    Gaps Remain for Achieving HbA1c Targets for People with Type 1 or Type 2 Diabetes Using Insulin: Results from NHANES 2009–2020 de réir Emily R. Hankosky, David Schapiro, Karli B. Gunn, Elizabeth B. Lubelczyk, Jessica Mitroi, David R. Nelson

    Foilsithe / Cruthaithe 2023
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  2. 2
    Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice

    Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice de réir Eugen Widmeier, Merlin Airik, Hannah Hugo, David Schapiro, Johannes Wedel, Chandra C. Ghosh, Makiko Nakayama, Ronen Schneider, Agape M. Awad, Anish Nag, Jang Cho, Markus Schueler, Catherine F. Clarke, Rannar Airik, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2019
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  3. 3
    Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

    Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy de réir Yo Jun Choi, Jan Halbritter, Daniela A. Braun, Markus Schueler, David Schapiro, John Hoon Rim, Sumeda Nandadasa, Won‐Il Choi, Eugen Widmeier, Shirlee Shril, Friederike Körber, Sidharth Kumar Sethi, Richard P. Lifton, Bodo B. Beck, Suneel Apte, Heon Yung Gee, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2019
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  4. 4
    ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment

    ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment de réir Eugen Widmeier, Seyoung Yu, Anish Nag, Youn Wook Chung, Makiko Nakayama, Lucía Fernández-del-Río, Hannah Hugo, David Schapiro, Florian Buerger, Won‐Il Choi, Martin Helmstädter, Jae Woo Kim, Ji-Hwan Ryu, Min Goo Lee, Catherine F. Clarke, Friedhelm Hildebrandt, Heon Yung Gee

    Foilsithe / Cruthaithe 2020
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  5. 5
    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 de réir 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

    Foilsithe / Cruthaithe 2017
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  6. 6
    Mutations in <i>WDR4</i> as a new cause of Galloway–Mowat syndrome

    Mutations in <i>WDR4</i> as a new cause of Galloway–Mowat syndrome de réir Daniela A. Braun, Shirlee Shril, Aditi Sinha, Ronen Schneider, Weizhen Tan, Shazia Ashraf, Tobias Hermle, Tilman Jobst‐Schwan, Eugen Widmeier, Amar J. Majmundar, Ankana Daga, Jillian K. Warejko, Makiko Nakayama, David Schapiro, Jing Chen, Merlin Airik, Jia Rao, Johanna Magdalena Schmidt, Charlotte A. Hoogstraten, Hannah Hugo, Jitendra Meena, Monkol Lek, Kristen M. Laricchia, Arvind Bagga, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2018
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  7. 7
    Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

    Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome de réir Daniela A. Braun, Carolin E. Sadowski, Stefan Kohl, Svjetlana Lovric, Susanne Adina Astrinidis, Werner L. Pabst, Heon Yung Gee, Shazia Ashraf, Jennifer A. Lawson, Shirlee Shril, Merlin Airik, Weizhen Tan, David Schapiro, Jia Rao, Won‐Il Choi, Tobias Hermle, Markus J. Kemper, Martin Pöhl, Fatih Özaltın, Martin Konrad, Radovan Bogdanović, Rainer Büscher, U. Helmchen, Erkin Serdaroğlu, Richard P. Lifton, Wolfram Antonin, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2016
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  8. 8
    GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome

    GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome de réir Tobias Hermle, Ronen Schneider, David Schapiro, Daniela A. Braun, Amelie T. van der Ven, Jillian K. Warejko, Ankana Daga, Eugen Widmeier, Makiko Nakayama, Tilman Jobst‐Schwan, Amar J. Majmundar, Shazia Ashraf, Jia Rao, Laura S. Finn, Velibor Tasić, Joel D. Hernandez, Arvind Bagga, Sawsan M. Jalalah, Sherif El Desoky, Jameela A. Kari, Kristen M. Laricchia, Monkol Lek, Heidi L. Rehm, Daniel G. MacArthur, Shrikant Mane, Richard P. Lifton, Shirlee Shril, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2018
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  9. 9
    Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

    Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome de réir Jia Rao, Shazia Ashraf, Weizhen Tan, Amelie T. van der Ven, Heon Yung Gee, Daniela A. Braun, Krisztina Fehér, Sudeep P. George, Amin Esmaeilniakooshkghazi, Won‐Il Choi, Tilman Jobst‐Schwan, Ronen Schneider, Johanna Magdalena Schmidt, Eugen Widmeier, Jillian K. Warejko, Tobias Hermle, David Schapiro, Svjetlana Lovric, Shirlee Shril, Ankana Daga, Ahmet Nayır, Mohan Shenoy, Yincent Tse, Martin Bald, U. Helmchen, Sevgı Mır, Afig Berdelı, Jameela A. Kari, Sherif El Desoky, Neveen A. Soliman, Arvind Bagga, Shrikant Mane, Mohamad Aman Jairajpuri, Richard P. Lifton, Seema Khurana, José C. Martins, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2017
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  10. 10
    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 de réir 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

    Foilsithe / Cruthaithe 2017
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  11. 11
    Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

    Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome de réir Daniela A. Braun, Svjetlana Lovric, David Schapiro, Ronen Schneider, Jonathan Marquez, Maria Asif, Muhammad Sajid Hussain, Ankana Daga, Eugen Widmeier, Jia Rao, Shazia Ashraf, Weizhen Tan, C. Patrick Lusk, Amy Kolb, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Charlotte A. Hoogstraten, Kaitlyn Eddy, Thomas M. Kitzler, Shirlee Shril, Abubakar Moawia, Kathrin Schrage, Arwa Ishaq A. Khayyat, Jennifer A. Lawson, Heon Yung Gee, Jillian K. Warejko, Tobias Hermle, Amar J. Majmundar, Hannah Hugo, Birgit Budde, Susanne Motameny, Janine Altmüller, Angelika A. Noegel, Hanan Fathy, Daniel P. Gale, Syeda Seema Waseem, Ayaz Khan, Larissa Kerecuk, Seema Hashmi, Nilufar Mohebbi, Robert B. Ettenger, Erkin Serdaroğlu, Khalid Alhasan, Mais Hashem, Sara Gonçalves, Gema Ariceta, M Ubetagoyena, Wolfram Antonin, Shahid Mahmood Baig, Fowzan S. Alkuraya, Qian Shen, Hong Xu, Corinne Antignac, Richard P. Lifton, Shrikant Mane, Peter Nürnberg, Mustafa K. Khokha, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2018
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  12. 12
    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency de réir Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee, Babak Oskouian, Srinivas Honnappa, Won‐Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A. Braun, Carolin E. Sadowski, Eugen Widmeier, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H. Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Mónica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, François Bernier, A. Micheil Innes, Jillian S. Parboosingh, Ryan E. Lamont, Julian Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuß, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S. Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Núria Lloberas, A. Madrid, Vikas R. Dharnidharka, Anne M. Connolly, Marcia Willing, Megan A. Cooper, Richard P. Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D. Saba, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2017
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  13. 13
    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome de réir 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

    Foilsithe / Cruthaithe 2017
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  14. 14
    Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

    Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment de réir Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A. Lawson, Weizhen Tan, Tobias Hermle, Jillian K. Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst‐Schwan, Svjetlana Lovric, Daniela A. Braun, Heon Yung Gee, David Schapiro, Amar J. Majmundar, Carolin E. Sadowski, Werner L. Pabst, Ankana Daga, Amelie T. van der Ven, Johanna Magdalena Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K. Tripathi, Jenny Wong, Kirk N. Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A. Kari, Sherif El Desoky, Sawsan M. Jalalah, Radovan Bogdanović, Nataša Stajić, H. Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, J. Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A. Soliman, Shrikant Mane, Lewis Kaufman, Douglas R. Lowy, Mohamad Aman Jairajpuri, Richard P. Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2018
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  15. 15
    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 de réir 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

    Foilsithe / Cruthaithe 2018
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  16. 16
    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly de réir Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Mónica Furlano, Ida Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer Hu, Anne‐Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloĝlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker

    Foilsithe / Cruthaithe 2017
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