نتائج البحث - Igor Pediaditakis

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  1. 1
    The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes

    The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes حسب Gentzon Hall, Brandon M. Lane, Kamal Khan, Igor Pediaditakis, Jianqiu Xiao, Guanghong Wu, Liming Wang, Maria E. Kovalik, Megan Chryst-Stangl, Erica E. Davis, Robert F. Spurney, Rasheed Gbadegesin

    منشور في 2018
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    Artigo
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  2. 2
    Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

    Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome حسب Anna Lindstrand, Stephan G. Frangakis, Claudia M.B. Carvalho, Ellen Richardson, Kelsey McFadden, Jason R. Willer, Davut Pehli̇van, Pengfei Liu, Igor Pediaditakis, Aniko Sabo, Richard A. Lewis, Eyal Banin, James R. Lupski, Erica E. Davis, Nicholas Katsanis

    منشور في 2016
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    Artigo
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  3. 3
    Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

    Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia حسب Nikhita Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, Christine Van Hemelrijk, Dorien Schepers, Geert Vandeweyer, Alexander Hoischen, Jeroen R. Huyghe, Ann Raes, E Matthys, Emiel Sys, M Azou, Marie‐Claire Gubler, Marleen Praet, Guy Van Camp, Kelsey McFadden, Igor Pediaditakis, Anna Přistoupilová, Kateřina Hodaňová, Petr Vyleťal, Hana Hartmannová, Viktor Stránecký, Helena Hůlková, Veronika Barešová, Ivana Jedličková, Jana Sovová, Aleš Hnı́zda, Kendrah Kidd, Anthony J. Bleyer, Richard Spong, Johan Vande Walle, Geert Mortier, Han G. Brunner, Lut Van Laer, Stanislav Kmoch, Nicholas Katsanis, Bart Loeys

    منشور في 2016
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    Artigo
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  4. 4
    Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

    Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations حسب Simone Sanna‐Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita‐Laza, Valentina Capone, David Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A. Otto, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Katarina Vukojević, Igor Pediaditakis, Gabriel S. Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, J. A. E. van Wijk, Adela Arapović, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasić, Gian Marco Ghiggeri, Anna Latos‐Bieleńska, Anna Materna‐Kiryluk, Shrikant Mane, David B. Goldstein, Richard P. Lifton, Nicholas Katsanis, Erica E. Davis, Ali G. Gharavi

    منشور في 2017
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    Artigo
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  5. 5
    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling حسب Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, W.M. Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie T. R. M. Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gécz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton‐Brown, Michael Parker, Alex Henderson, Sally Ann Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury‐Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques C. Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin R. Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine E. Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster‐Barber, Antonie D. Kline, Amy Kimball, Elaine H. Zackai, Margaret Harr, Joyce E. Fox, Julie McLaughlin, Kristin Lindstrom, Katrina Haude, Kees van Roozendaal, Han G. Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera M. Kalscheuer, Sarju Mehta, Nicholas Katsanis, Tjitske Kleefstra

    منشور في 2015
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    Artigo
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