Loading Filters
Showing 1–6 of 6 results
-
-
-
Research |
-
Research |
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
- Daniela A Braun
- , Carolin E Sadowski
- , Stefan Kohl
- , Svjetlana Lovric
- , Susanne A Astrinidis
- , Werner L Pabst
- , Heon Yung Gee
- , Shazia Ashraf
- , Jennifer A Lawson
- , Shirlee Shril
- , Merlin Airik
- , Weizhen Tan
- , David Schapiro
- , Jia Rao
- , Won-Il Choi
- , Tobias Hermle
- , Markus J Kemper
- , Martin Pohl
- , Fatih Ozaltin
- , Martin Konrad
- , Radovan Bogdanovic
- , Rainer Büscher
- , Udo Helmchen
- , Erkin Serdaroglu
- , Richard P Lifton
- , Wolfram Antonin
- & Friedhelm Hildebrandt
-
Research |
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
- John A Sayer
- , Edgar A Otto
- , John F O'Toole
- , Gudrun Nurnberg
- , Michael A Kennedy
- , Christian Becker
- , Hans Christian Hennies
- , Juliana Helou
- , Massimo Attanasio
- , Blake V Fausett
- , Boris Utsch
- , Hemant Khanna
- , Yan Liu
- , Iain Drummond
- , Isao Kawakami
- , Takehiro Kusakabe
- , Motoyuki Tsuda
- , Li Ma
- , Hwankyu Lee
- , Ronald G Larson
- , Susan J Allen
- , Christopher J Wilkinson
- , Erich A Nigg
- , Chengchao Shou
- , Concepcion Lillo
- , David S Williams
- , Bernd Hoppe
- , Markus J Kemper
- , Thomas Neuhaus
- , Melissa A Parisi
- , Ian A Glass
- , Marianne Petry
- , Andreas Kispert
- , Joachim Gloy
- , Athina Ganner
- , Gerd Walz
- , Xueliang Zhu
- , Daniel Goldman
- , Peter Nurnberg
- , Anand Swaroop
- , Michel R Leroux
- & Friedhelm Hildebrandt
-
Research |
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
- Bodo B Beck
- , Anne Baasner
- , Anja Buescher
- , Sandra Habbig
- , Nadine Reintjes
- , Markus J Kemper
- , Przemyslaw Sikora
- , Christoph Mache
- , Martin Pohl
- , Mirjam Stahl
- , Burkhard Toenshoff
- , Lars Pape
- , Henry Fehrenbach
- , Dorrit E Jacob
- , Bernd Grohe
- , Matthias T Wolf
- , Gudrun Nürnberg
- , Gökhan Yigit
- , Eduardo C Salido
- & Bernd Hoppe
