检索结果 - Horia Stanescu

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  1. 1
    EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

    EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 由 Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta, Detlef Böckenhauer

    出版 2016
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  2. 2
    Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings

    Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings 由 Anselm A. Zdebik, Fahad Mahmood, Horia Stanescu, Robert Kleta, Detlef Böckenhauer, Claire Russell

    出版 2013
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  3. 3
    Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity

    Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity 由 Jason A Clark, Maria L. Turner, Lillian Howard, Horia Stanescu, Robert Kleta, Jeffrey B. Kopp

    出版 2009
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  4. 4
    Screening of human <i>LPHN3</i> for variants with a potential impact on ADHD susceptibility

    Screening of human <i>LPHN3</i> for variants with a potential impact on ADHD susceptibility 由 Sabina Domené, Horia Stanescu, Deeann Wallis, Bradford Tinloy, Daniel Pineda, Robert Kleta, Mauricio Arcos‐Burgos, Erich Roessler, Maximilian Muenke

    出版 2010
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  5. 5
    Generation and validation of a zebrafish model of EAST (Epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

    Generation and validation of a zebrafish model of EAST (Epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome 由 Fahad Mahmood, Monika Mozere, Anselm A. Zdebik, Horia Stanescu, Jonathan L. Tobin, Philip L. Beales, Robert Kleta, Detlef Böckenhauer, Claire Russell

    出版 2013
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  6. 6
    STAG3 truncating variant as the cause of primary ovarian insufficiency

    STAG3 truncating variant as the cause of primary ovarian insufficiency 由 Polona Le Quesne Stabej, Hywel Williams, Chela James, Mehmet Tekman, Horia Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L. Storr, Maria Bitner‐Glindzicz, Chiara Bacchelli, Gerard S. Conway

    出版 2015
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  7. 7
    Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue—a case series and genetic exploration

    Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue—a case series and genetic exploration 由 Dorota Rowczenio, Daniela Iancu, Hadija Trojer, Janet A. Gilbertson, Julian D. Gillmore, Ashutosh Wechalekar, Mehmet Tekman, Horia Stanescu, Robert Kleta, Thirusha Lane, Philip N. Hawkins, Helen J. Lachmann

    出版 2016
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  8. 8
    Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies

    Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies 由 Peggy Sekula, Yong Li, Horia Stanescu, Matthias Wuttke, Arif B. Ekici, Detlef Böckenhauer, Gerd Walz, Stephen H. Powis, Jan T. Kielstein, Paul Brenchley, Kai‐Uwe Eckardt, Florian Kronenberg, Robert Kleta, Anna Köttgen

    出版 2016
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  9. 9
    Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

    Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency 由 Chiara Bacchelli, Federico A. Moretti, Marlene Carmo, Stuart Adams, Horia Stanescu, Kerra Pearce, Manisha Madkaikar, Kimberly Gilmour, Adeline K. Nicholas, C. Geoffrey Woods, Robert Kleta, Phil Beales, Waseem Qasim, H. Bobby Gaspar

    出版 2016
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  10. 10
    Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1

    Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1 由 Daniel P. Gale, Karen Molyneux, David Wimbury, Patricia A. Higgins, Adam P. Levine, Ben Caplin, Anna Ferlin, Peiran Yin, Christopher P. Nelson, Horia Stanescu, Nilesh J. Samani, Robert Kleta, Xueqing Yu, Jonathan Barratt

    出版 2017
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  11. 11
    Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

    Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome 由 Dorothy Thompson, Sally Feather, Horia Stanescu, Bernard Freudenthal, Anselm A. Zdebik, Richard Warth, Miloš Ognjanović, Sally A. Hulton, Evangeline Wassmer, William van’t Hoff, Isabelle Russell‐Eggitt, Angus Dobbie, Eamonn Sheridan, Robert Kleta, Detlef Böckenhauer

    出版 2011
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  12. 12
    Phospholipase A2 Receptor (PLA2R1) Sequence Variants in Idiopathic Membranous Nephropathy

    Phospholipase A2 Receptor (PLA2R1) Sequence Variants in Idiopathic Membranous Nephropathy 由 Marieke J. H. Coenen, Julia M. Hofstra, Hanna Dębiec, Horia Stanescu, Alan Medlar, Bénédicte Stengel, Anne Boland, Johanne M. Groothuismink, Detlef Böckenhauer, S Powis, Peter W. Mathieson, Paul Brenchley, Robert Kleta, Jack F.M. Wetzels, Pierre Ronco

    出版 2013
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  13. 13
    Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

    Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia 由 Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis, Nicola MacDonald, Daniah Trabzuni, Mina Ryten, Alan Pittman, Reema Paudel, Eleanna Kara, Katherine A. Fawcett, Vincent Plagnol, Kailash P. Bhatia, Alan Medlar, Horia Stanescu, John Hardy, Robert Kleta, Nicholas Wood, Henry Houlden

    出版 2012
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    Artigo
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  14. 14
    Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <i>WDR1 </i>

    Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <i>WDR1 </i> 由 Ariane Standing, Dessislava Malinova, Ying Hong, Julien Record, Dale Moulding, Michael P. Blundell, Karolin Nowak, Hannah E. Jones, Ebun Omoyinmi, Kimberly Gilmour, Alan Medlar, Horia Stanescu, Robert Kleta, Glenn Anderson, Sira Nanthapisal, Sónia Gomes, Nigel Klein, Despina Eleftheriou, Adrian J. Thrasher, Paul Brogan

    出版 2016
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  15. 15
    Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

    Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C 由 Guida Landouré, Anselm A. Zdebik, Tara Martinez, Barrington G. Burnett, Horia Stanescu, Hitoshi Inada, Yijun Shi, Addis A. Taye, Lingling Kong, Clare H. Munns, Shelly S. Choo, Christopher B. Phelps, Reema Paudel, Henry Houlden, Christy L. Ludlow, Michael J. Caterina, Rachelle Gaudet, Robert Kleta, Kenneth H. Fischbeck, Charlotte J. Sumner

    出版 2009
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  16. 16
    A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance

    A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance 由 Charlotte J. Sumner, Constantin d’Ydewalle, Joe Wooley, Katherine A. Fawcett, Dena Hernández, A. Gardiner, Bernadett Kalmár, Robert H. Baloh, Michael Gonzalez, Stephan Züchner, Horia Stanescu, Robert Kleta, Ami Mankodi, David R. Cornblath, Khrista Boylan, Mary M. Reilly, Linda Greensmith, Andrew Singleton, Matthew B. Harms, Alexander M. Rossor, Henry Houlden

    出版 2013
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  17. 17
    <i>NT5E</i>Mutations and Arterial Calcifications

    <i>NT5E</i>Mutations and Arterial Calcifications 由 Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello, Alfredo Brusco, Catherine Groden, Fred A. Gill, Hannah Carlson-Donohoe, Robert J. Lederman, Marcus Y. Chen, Dan Yang, Michael Siegenthaler, Carlo Arduino, Cecilia Mancini, Bernard Freudenthal, Horia Stanescu, Anselm A. Zdebik, R.K. Chaganti, Robert L. Nussbaum, Robert Kleta, William A. Gahl, Manfred Boehm

    出版 2011
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  18. 18
    HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

    HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting 由 Shazia Adalat, Adrian S. Woolf, Karen A. Johnstone, Andrea Wirsing, Lorna W. Harries, David A. Long, Raoul C. M. Hennekam, Sarah Ledermann, Lesley Rees, William van’t Hoff, Stephen D. Marks, Richard S. Trompeter, Kjell Tullus, Paul J.D. Winyard, Janette Cansick, Imran Mushtaq, H.K. Dhillon, Coralie Bingham, Emma L. Edghill, Rukshana Shroff, Horia Stanescu, Gerhart U. Ryffel, Sian Ellard, Detlef Böckenhauer

    出版 2009
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  19. 19
    Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and<i>KCNJ10</i>Mutations

    Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and<i>KCNJ10</i>Mutations 由 Detlef Böckenhauer, Sally Feather, Horia Stanescu, Sascha Bandulik, Anselm A. Zdebik, Markus Reichold, Jonathan L. Tobin, Evelyn Lieberer, Christina Sterner, Guida Landouré, Ruchi Arora, Tony Sirimanna, Dorothy Thompson, J. Helen Cross, William van’t Hoff, Omar Masri, Kjell Tullus, Stella Yeung, Yair Anikster, Enriko Klootwijk, Michael Hubank, Michael J. Dillon, Dirk Heitzmann, Mauricio Arcos‐Burgos, Mark A. Knepper, Angus Dobbie, William A. Gahl, Richard Warth, Eamonn Sheridan, Robert Kleta

    出版 2009
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  20. 20
    A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

    A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling 由 Asaf Vivante, Nina Mann, Hagith Yonath, Anna-Carina Weiss, Maike Getwan, Michael M. Kaminski, Tobias Bohnenpoll, Catherine Teyssier, Jing Chen, Shirlee Shril, Amelie T. van der Ven, Hadas Ityel, Johanna Magdalena Schmidt, Eugen Widmeier, Stuart B. Bauer, Simone Sanna‐Cherchi, Ali G. Gharavi, Lu W, Daniella Magen, Rachel Shukrun, Richard P. Lifton, Velibor Tasić, Horia Stanescu, Vincent Cavaillès, Robert Kleta, Yair Anikster, Benjamin Dekel, Andreas Kispert, Soeren S. Lienkamp, Friedhelm Hildebrandt

    出版 2017
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