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	1.	The Human FSGS-Causing [electronic resource] by Hall, Gentzon Lane, Brandon M Khan, Kamal Pediaditakis, Igor Xiao, Jianqiu Wu, Guanghong Wang, Liming Kovalik, Maria E Chryst-Stangl, Megan Davis, Erica E Spurney, Robert F Gbadegesin, Rasheed A Producer: 20190913 In: Journal of the American Society of Nephrology : JASN vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. [electronic resource] by Lindstrand, Anna Frangakis, Stephan Carvalho, Claudia M B Richardson, Ellen B McFadden, Kelsey A Willer, Jason R Pehlivan, Davut Liu, Pengfei Pediaditakis, Igor L Sabo, Aniko Lewis, Richard Alan Banin, Eyal Lupski, James R Davis, Erica E Katsanis, Nicholas Producer: 20170509 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. [electronic resource] by Bolar, Nikhita Ajit Golzio, Christelle Živná, Martina Hayot, Gaëlle Van Hemelrijk, Christine Schepers, Dorien Vandeweyer, Geert Hoischen, Alexander Huyghe, Jeroen R Raes, Ann Matthys, Erve Sys, Emiel Azou, Myriam Gubler, Marie-Claire Praet, Marleen Van Camp, Guy McFadden, Kelsey Pediaditakis, Igor Přistoupilová, Anna Hodaňová, Kateřina Vyleťal, Petr Hartmannová, Hana Stránecký, Viktor Hůlková, Helena Barešová, Veronika Jedličková, Ivana Sovová, Jana Hnízda, Aleš Kidd, Kendrah Bleyer, Anthony J Spong, Richard S Vande Walle, Johan Mortier, Geert Brunner, Han Van Laer, Lut Kmoch, Stanislav Katsanis, Nicholas Loeys, Bart L Producer: 20170519 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. [electronic resource] by Sanna-Cherchi, Simone Khan, Kamal Westland, Rik Krithivasan, Priya Fievet, Lorraine Rasouly, Hila Milo Ionita-Laza, Iuliana Capone, Valentina P Fasel, David A Kiryluk, Krzysztof Kamalakaran, Sitharthan Bodria, Monica Otto, Edgar A Sampson, Matthew G Gillies, Christopher E Vega-Warner, Virginia Vukojevic, Katarina Pediaditakis, Igor Makar, Gabriel S Mitrotti, Adele Verbitsky, Miguel Martino, Jeremiah Liu, Qingxue Na, Young-Ji Goj, Vinicio Ardissino, Gianluigi Gigante, Maddalena Gesualdo, Loreto Janezcko, Magdalena Zaniew, Marcin Mendelsohn, Cathy Lee Shril, Shirlee Hildebrandt, Friedhelm van Wijk, Joanna A E Arapovic, Adela Saraga, Marijan Allegri, Landino Izzi, Claudia Scolari, Francesco Tasic, Velibor Ghiggeri, Gian Marco Latos-Bielenska, Anna Materna-Kiryluk, Anna Mane, Shrikant Goldstein, David B Lifton, Richard P Katsanis, Nicholas Davis, Erica E Gharavi, Ali G Producer: 20171113 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. [electronic resource] by Sanna-Cherchi, Simone Khan, Kamal Westland, Rik Krithivasan, Priya Fievet, Lorraine Rasouly, Hila Milo Ionita-Laza, Iuliana Capone, Valentina P Fasel, David A Kiryluk, Krzysztof Kamalakaran, Sitharthan Bodria, Monica Otto, Edgar A Sampson, Matthew G Gillies, Christopher E Vega-Warner, Virginia Vukojevic, Katarina Pediaditakis, Igor Makar, Gabriel S Mitrotti, Adele Verbitsky, Miguel Martino, Jeremiah Liu, Qingxue Na, Young-Ji Goj, Vinicio Ardissino, Gianluigi Gigante, Maddalena Gesualdo, Loreto Janezcko, Magdalena Zaniew, Marcin Mendelsohn, Cathy Lee Shril, Shirlee Hildebrandt, Friedhelm van Wijk, Joanna A E Arapovic, Adela Saraga, Marijan Allegri, Landino Izzi, Claudia Scolari, Francesco Tasic, Velibor Ghiggeri, Gian Marco Latos-Bielenska, Anna Materna-Kiryluk, Anna Mane, Shrikant Goldstein, David B Lifton, Richard P Katsanis, Nicholas Davis, Erica E Gharavi, Ali G Publication details: American journal of human genetics 12 2017 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. [electronic resource] by Snijders Blok, Lot Madsen, Erik Juusola, Jane Gilissen, Christian Baralle, Diana Reijnders, Margot R F Venselaar, Hanka Helsmoortel, Céline Cho, Megan T Hoischen, Alexander Vissers, Lisenka E L M Koemans, Tom S Wissink-Lindhout, Willemijn Eichler, Evan E Romano, Corrado Van Esch, Hilde Stumpel, Connie Vreeburg, Maaike Smeets, Eric Oberndorff, Karin van Bon, Bregje W M Shaw, Marie Gecz, Jozef Haan, Eric Bienek, Melanie Jensen, Corinna Loeys, Bart L Van Dijck, Anke Innes, A Micheil Racher, Hilary Vermeer, Sascha Di Donato, Nataliya Rump, Andreas Tatton-Brown, Katrina Parker, Michael J Henderson, Alex Lynch, Sally A Fryer, Alan Ross, Alison Vasudevan, Pradeep Kini, Usha Newbury-Ecob, Ruth Chandler, Kate Male, Alison Dijkstra, Sybe Schieving, Jolanda Giltay, Jacques van Gassen, Koen L I Schuurs-Hoeijmakers, Janneke Tan, Perciliz L Pediaditakis, Igor Haas, Stefan A Retterer, Kyle Reed, Patrick Monaghan, Kristin G Haverfield, Eden Natowicz, Marvin Myers, Angela Kruer, Michael C Stein, Quinn Strauss, Kevin A Brigatti, Karlla W Keating, Katherine Burton, Barbara K Kim, Katherine H Charrow, Joel Norman, Jennifer Foster-Barber, Audrey Kline, Antonie D Kimball, Amy Zackai, Elaine Harr, Margaret Fox, Joyce McLaughlin, Julie Lindstrom, Kristin Haude, Katrina M van Roozendaal, Kees Brunner, Han Chung, Wendy K Kooy, R Frank Pfundt, Rolph Kalscheuer, Vera Mehta, Sarju G Katsanis, Nicholas Kleefstra, Tjitske Producer: 20151029 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)