Items where Author is "Stanescu, Horia C."

Article

Issler, Naomi and Afonso, Sara and Weissman, Irith and Jordan, Katrin and Cebrian-Serrano, Alberto and Meindl, Katrin and Dahlke, Eileen and Tziridis, Konstantin and Yan, Guanhua and Robles-Lopez, Jose M. and Tabernero, Lydia and Patel, Vaksha and Kesselheim, Anne and Klootwijk, Enriko D. and Stanescu, Horia C. and Dumitriu, Simona and Iancu, Daniela and Tekman, Mehmet and Mozere, Monika and Jaureguiberry, Graciana and Outtandy, Priya and Russell, Claire and Forst, Anna-Lena and Sterner, Christina and Heinl, Elena-Sofia and Othmen, Helga and Tegtmeier, Ines and Reichold, Markus and Schiessl, Ina Maria and Limm, Katharina and Oefner, Peter and Witzgall, Ralph and Fu, Lifei and Theilig, Franziska and Schilling, Achim and Biton, Efrat Shuster and Kalfon, Limor and Fedida, Ayalla and Arnon-Sheleg, Elite and Ben Izhak, Ofer and Magen, Daniella and Anikster, Yair and Schulze, Holger and Ziegler, Christine and Lowe, Martin and Davies, Benjamin and Boeckenhauer, Detlef and Kleta, Robert and Zaccai, Tzipora C. Falik and Warth, Richard (2022) A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 33 (4). pp. 732-745. ISSN 1046-6673, 1533-3450

Reichold, Markus and Klootwijk, Enriko D. and Reinders, Joerg and Otto, Edgar A. and Milani, Mario and Broeker, Carsten and Laing, Chris and Wiesner, Julia and Devi, Sulochana and Zhou, Weibin and Schmitt, Roland and Tegtmeier, Ines and Sterner, Christina and Doellerer, Hannes and Renner, Kathrin and Oefner, Peter J. and Dettmer, Katja and Simbuerger, Johann M. and Witzgall, Ralph and Stanescu, Horia C. and Dumitriu, Simona and Iancu, Daniela and Patel, Vaksha and Mozere, Monika and Tekman, Mehmet and Jaureguiberry, Graciana and Issler, Naomi and Kesselheim, Anne and Walsh, Stephen B. and Gale, Daniel P. and Howie, Alexander J. and Martins, Joana R. and Hall, Andrew M. and Kasgharian, Michael and O'Brien, Kevin and Ferreira, Carlos R. and Atwal, Paldeep S. and Jain, Mahim and Hammers, Alexander and Charles-Edwards, Geoffrey and Choe, Chi-Un and Isbrandt, Dirk and Cebrian-Serrano, Alberto and Davies, Ben and Sandford, Richard N. and Pugh, Christopher and Konecki, David S. and Povey, Sue and Bockenhauer, Detlef and Lichter-Konecki, Uta and Gahl, William A. and Unwin, Robert J. and Warth, Richard and Kleta, Robert (2018) Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 29 (7). pp. 1849-1858. ISSN 1046-6673, 1533-3450

Thompson, Dorothy A. and Feather, Sally and Stanescu, Horia C. and Freudenthal, Bernard and Zdebik, Anselm A. and Warth, Richard and Ognjanovic, Milos and Hulton, Sally A. and Wassmer, Evangeline and van't Hoff, William and Russell-Eggitt, Isabelle and Dobbie, Angus and Sheridan, Eamonn and Kleta, Robert and Bockenhauer, Detlef (2011) Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. JOURNAL OF PHYSIOLOGY-LONDON, 589 (7). pp. 1681-1689. ISSN 0022-3751, 1469-7793

Bockenhauer, Detlef and Feather, Sally and Stanescu, Horia C. and Bandulik, Sascha and Zdebik, Anselm A. and Reichold, Markus and Tobin, Jonathan and Lieberer, Evelyn and Sterner, Christina and Landoure, Guida and Arora, Ruchi and Sirimanna, Tony and Thompson, Dorothy and Cross, J. Helen and van't Hoff, William and Al Masri, Omar and Tullus, Kjell and Yeung, Stella and Anikster, Yair and Klootwijk, Enriko and Hubank, Mike and Dillon, Michael J. and Heitzmann, Dirk and Arcos-Burgos, Mauricio and Knepper, Mark A. and Dobbie, Angus and Gahl, William A. and Warth, Richard and Sheridan, Eamonn and Kleta, Robert (2009) Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations. NEW ENGLAND JOURNAL OF MEDICINE, 360 (19). pp. 1960-1970. ISSN 0028-4793, 1533-4406