检索结果 - Seema Hashmi

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  1. 1
    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 由 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

    出版 2015
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  2. 2
    Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

    Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis 由 Tilman Jobst‐Schwan, Verena Klämbt, Maureen Tarsio, John F. Heneghan, Amar J. Majmundar, Shirlee Shril, Florian Buerger, Isabel Ottlewski, Boris E. Shmukler, Rezan Topaloĝlu, Seema Hashmi, Farkhanda Hafeez, Francesco Emma, Marcella Greco, Guido F. Laube, Hanan Fathy, Martin Pöhl, Jutta Gellermann, Danko Milošević, Michelle A. Baum, Shrikant Mane, Richard P. Lifton, Patricia M. Kane, Seth L. Alper, Friedhelm Hildebrandt

    出版 2019
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  3. 3
    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 由 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

    出版 2017
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  4. 4
    Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

    Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome 由 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

    出版 2018
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  5. 5
    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 由 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

    出版 2017
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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 由 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

    出版 2017
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