Torthaí cuardaigh - Yaacov Frishberg

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  1. 1
    Mutations in NPHS2 Encoding Podocin Are a Prevalent Cause of Steroid-Resistant Nephrotic Syndrome among Israeli-Arab Children

    Mutations in NPHS2 Encoding Podocin Are a Prevalent Cause of Steroid-Resistant Nephrotic Syndrome among Israeli-Arab Children de réir Yaacov Frishberg, Choni Rinat, Orli Megged, Eli Shapira, Sofia Feinstein, Annick Raas‐Rothschild

    Foilsithe / Cruthaithe 2002
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  2. 2
    Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

    Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome de réir Ruth Belostotsky, Efrat Ben‐Shalom, Choni Rinat, Rachel Becker‐Cohen, Sofia Feinstein, Sharon Zeligson, Reeval Segel, Orly Elpeleg, Suheir M Nassar, Yaacov Frishberg

    Foilsithe / Cruthaithe 2011
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  3. 3
    Hyperostosis–Hyperphosphatemia Syndrome: A Congenital Disorder of <i>O</i>-Glycosylation Associated With Augmented Processing of Fibroblast Growth Factor 23

    Hyperostosis–Hyperphosphatemia Syndrome: A Congenital Disorder of <i>O</i>-Glycosylation Associated With Augmented Processing of Fibroblast Growth Factor 23 de réir Yaacov Frishberg, Nobuaki Ito, Choni Rinat, Y. Yamazaki, Sofia Feinstein, Itaru Urakawa, Paulina Navon-Elkan, Rachel Becker‐Cohen, Takeyoshi Yamashita, Kaori Araya, Takashi Igarashi, Toshiro Fujita, Seiji Fukumoto

    Foilsithe / Cruthaithe 2006
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  4. 4
    Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

    Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III de réir Ruth Belostotsky, Eric Seboun, Gregory H. Idelson, Dawn S. Milliner, Rachel Becker‐Cohen, Choni Rinat, Carla G. Monico, Sofia Feinstein, Efrat Ben‐Shalom, Daniella Magen, Irith Weissman, Céline Charon, Yaacov Frishberg

    Foilsithe / Cruthaithe 2010
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  5. 5
    Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial

    Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial de réir Wesley Hayes, David J. Sas, Daniella Magen, Hadas Shasha‐Lavsky, Mini Michael, Anne‐Laure Sellier‐Leclerc, Julien Hogan, Taylor Ngo, Marianne T. Sweetser, John M. Gansner, Tracy L. McGregor, Yaacov Frishberg

    Foilsithe / Cruthaithe 2022
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  6. 6
    Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis

    Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis de réir Carla G. Monico, Sandro Rossetti, Ruth Belostotsky, Andrea G. Cogal, Regina M. Herges, Barbara M. Seide, Julie B. Olson, Eric J. Bergstrahl, Hugh J. Williams, William E. Haley, Yaacov Frishberg, Dawn S. Milliner

    Foilsithe / Cruthaithe 2011
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  7. 7
    Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

    Mutations of NPHP2 and NPHP3 in infantile nephronophthisis de réir Kálmán Tory, Caroline Rousset‐Rouvière, Marie‐Claire Gubler, Vincent Morinière, Audrey Pawtowski, C. Becker, C. Guyot, Sophie Gié, Yaacov Frishberg, Hubert Nivet, Georges Deschênes, Pierre Cochat, Marie‐France Gagnadoux, Sophie Saunier, Corinne Antignac, Rémi Salomon

    Foilsithe / Cruthaithe 2009
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  8. 8
    Peritoneal Dialysis for Acute Kidney Injury

    Peritoneal Dialysis for Acute Kidney Injury de réir Brett Cullis, Mohamed Abdelraheem, Georgi Abrahams, André Luís Balbi, Dinna N. Cruz, Yaacov Frishberg, Vera Hermina Kalika Koch, Mignon McCulloch, Alp Numanoğlu, Peter Nourse, Roberto Pecoits–Filho, Daniela Ponce, Bradley A. Warady, Karen Yeates, Fredric O. Finkelstein

    Foilsithe / Cruthaithe 2014
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  9. 9
    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications de réir Andreas Janecke, Ruijuan Xu, Elisabeth Steichen‐Gersdorf, Siegfried Waldegger, Andreas Entenmann, Thomas Giner, Iris M. Krainer, Lukas A. Huber, Michael W. Hess, Yaacov Frishberg, Hila Barash, Shay Tzur, Nira Schreyer‐Shafir, Rivka Sukenik‐Halevy, Tania Zehavi, Annick Raas‐Rothschild, Cungui Mao, Thomas Müller

    Foilsithe / Cruthaithe 2017
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  10. 10
    Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1

    Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1 de réir Yaacov Frishberg, Georges Deschênes, Jaap W. Groothoff, Sally‐Anne Hulton, Daniella Magen, Jérôme Harambat, William G. van’t Hoff, Ulrike Lorch, Dawn S. Milliner, John C. Lieske, Patrick Haslett, Pushkal Garg, Akshay Vaishnaw, Sandeep Talamudupula, Jiandong Lu, Bahru Habtemariam, David V. Erbe, Tracy L. McGregor, Pierre Cochat

    Foilsithe / Cruthaithe 2021
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  11. 11
    Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial

    Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial de réir Mini Michael, Jaap W. Groothoff, Hadas Shasha‐Lavsky, John C. Lieske, Yaacov Frishberg, Eva Šimková, Anne‐Laure Sellier‐Leclerc, Arnaud Devresse, Fitsum Guebre‐Egziabher, Sevcan A. Bakkaloğlu, Chebl Mourani, Rola Saqan, Richard Singer, Richard E. Willey, Bahru Habtemariam, John M. Gansner, Ishir Bhan, Tracy L. McGregor, Daniella Magen

    Foilsithe / Cruthaithe 2022
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  12. 12
    Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1

    Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1 de réir Sander F. Garrelfs, Yaacov Frishberg, Sally A. Hulton, Michael J. Koren, William O’Riordan, Pierre Cochat, Georges Deschênes, Hadas Shasha‐Lavsky, Jeffrey M. Saland, William G. van’t Hoff, Daniel G. Fuster, Daniella Magen, Shabbir H. Moochhala, Gesa Schalk, Eva Šimková, Jaap W. Groothoff, David J. Sas, Kristin Meliambro, Jiandong Lu, Marianne T. Sweetser, Pushkal Garg, Akshay Vaishnaw, John M. Gansner, Tracy L. McGregor, John C. Lieske

    Foilsithe / Cruthaithe 2021
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  13. 13
    ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

    ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling de réir Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf, Toby W. Hurd, Virginia Vega-Warner, Humphrey Fang, Bodo B. Beck, Olivier Gribouval, Weibin Zhou, Katrina A. Diaz, S. Natarajan, Roger C. Wiggins, Svjetlana Lovric, Gil Chernin, Dominik S. Schoeb, Buğsu Övünç, Yaacov Frishberg, Neveen A. Soliman, Hanan Fathy, Heike Goebel, Julia Hoefele, Lutz T. Weber, Jeffrey W. Innis, Christian Faul, Zhe Han, Joseph Washburn, Corinne Antignac, Shawn Levy, Edgar A. Otto, Friedhelm Hildebrandt

    Foilsithe / Cruthaithe 2013
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  14. 14
    Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children

    Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children de réir David J. Sas, Daniella Magen, Wesley Hayes, Hadas Shasha‐Lavsky, Mini Michael, Indra Schulte, Anne‐Laure Sellier‐Leclerc, Jiandong Lu, Ali Seddighzadeh, Bahru Habtemariam, Tracy L. McGregor, Kenji P. Fujita, Yaacov Frishberg, Justine Bacchetta, Véronique Baudouin, Rachel Becker‐Cohen, Shimrit Tzvi Behr, Efrat Ben‐Shalom, Maria Berdaguer, Detlef Böckenhauer, Pierre Cochat, Martin Coenen, Carl H. Cramer, Georges Deschênes, Claire Dossier, Emilie Doye, Liat Feraru Feldman, Maximilian Hohenadel, Florentia Kaguelidou, Irina Libinson Zebegret, John C. Lieske, Anne Maisin, Dawn S. Milliner, Moran Plonsky Toder, Shirley Pollack, Aurélie Portefaix, Bruno Ranchin, Choni Rinat, Adnan Safdar, Gesa Schalk, Poyyapakkam Srivaths, Cheryl L. Tran, William van’t Hoff, Jenny Weinbrand-Goichberg, Irith Weissman

    Foilsithe / Cruthaithe 2021
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  15. 15
    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies de réir Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Marc Jeanpierre, Kálmán Tory, Olivia Boyer, Anita Burgun, Aude Servais, Rémi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié‐Bitach, Valerie Comier-Daire, Jean‐Michel Rozet, Yaacov Frishberg, Brigitte Llanas, M. Broyer, Nabil Mohsin, Marie‐Alice Macher, Nicole Philip, Véronique Baudouin, D. Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, C. Guyot, Pierre Bataille, Mariet Elting, Georges Deschênes, Andrea Gropman, Geneviève Guest, Marie‐France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, A Bensman, Anne‐Marie Guerrot, Bertrand Knebelmann, İlmay Bilge, Bruno Daniele, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Éric Bieth, Sophie Gié, Judith Goodship, G. Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane L. Benoit, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, M. Kessler, Thérèsa Kwon, A. Lahoche, Audrey Laurent, Anne-Laure Leclerc, David V. Milford, Thomas J. Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio A. Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadıkoğlu, Christine Barnérias, Anne Barthélémy, Lina Basel, Nader Bassilios

    Foilsithe / Cruthaithe 2023
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