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5. MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy
作者:Julia Vodopiutz (1)
Maria T. Schmook (2)
Vassiliki Konstantopoulou (1)
Barbara Plecko (3)
Susanne Greber-Platzer (1)
Marc Creus (4)
Rainer Seidl (1)
Andreas R. Janecke (5) (6)

1. Department of Pediatrics and Adolescent Medicine
; Medical University of Vienna ; W盲hringer Grtel 18-20 ; 1090 ; Wien ; Austria
2. Department of Biomedical Imaging and Image-guided Therapy
; Division of Neuroradiology and Musculoskeletal Radiology ; Medical University of Vienna ; Wien ; Austria
3. Division of Neuropediatrics
; University Children鈥檚 Hospital Zrich ; Zurich ; Switzerland
4. Department of Chemistry
; University of Basel ; Basel ; Switzerland
5. Department of Pediatrics I
; Innsbruck Medical University ; Innsbruck ; Austria
6. Division of Human Genetics
; Innsbruck Medical University ; Innsbruck ; Austria
刊名:European Journal of Pediatrics
出版年:2015
6. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
作者:Michaela Thoenes (1)
Ulrike Zimmermann (2)
Inga Ebermann (1)
Martin Ptok (3)
Morag A Lewis (4)
Holger Thiele (5)
Susanne Morlot (6)
Markus M Hess (7)
Andreas Gal (8)
Tobias Eisenberger (9)
Carsten Bergmann (10) (9)
Gudrun Nrnberg (5)
Peter Nrnberg (11) (5)
Karen P Steel (4)
Marlies Knipper (2)
Hanno J枚rn Bolz (1) (9)

1. Institute of Human Genetics
; University Hospital of Cologne ; Cologne ; Germany
2. Molecular Physiology of Hearing
; Hearing Research Centre Tbingen (THRC) ; Department of Otolaryngology ; University of Tbingen ; Tbingen ; Germany
3. Department of Phoniatrics and Pediatric Audiology
; Hannover Medical School ; Hannover ; Germany
4. Wolfson Centre for Age-Related Diseases
; King鈥檚 College London ; London ; UK
5. Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC)
; University of Cologne ; Cologne ; Germany
6. Institute for Human Genetics
; Hannover Medical School ; Hannover ; Germany
7. Department of Voice
; Speech and Hearing Disorders ; University Medical Center Hamburg-Eppendorf ; Hamburg ; Germany
8. Department of Human Genetics
; University Medical Center Hamburg-Eppendorf ; Hamburg ; Germany
9. Center for Human Genetics
; Bioscientia ; Ingelheim ; Germany
10. Renal Division
; Department of Medicine ; University Medical Center Freiburg ; Freiburg ; Germany
11. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD)
; University of Cologne ; Cologne ; Germany
刊名:Orphanet Journal of Rare Diseases
出版年:2015
8. Rationale, design and objectives of ARegPKD, a European ARPKD registry study
作者:Kathrin Ebner (1)
Markus Feldkoetter (2)
Gema Ariceta (3)
Carsten Bergmann (4) (5)
Reinhard Buettner (6)
Anke Doyon (7)
Ali Duzova (8)
Heike Goebel (6)
Dieter Haffner (9)
Barbara Hero (1)
Bernd Hoppe (2)
Thomas Illig (10) (11)
Augustina Jankauskiene (12)
Norman Klopp (10)
Jens K枚nig (13)
Mieczyslaw Litwin (14)
Djalila Mekahli (15)
Bruno Ranchin (16)
Anja Sander (17)
Sara Testa (18)
Lutz Thorsten Weber (1)
Dorota Wicher (14)
Ayse Yuzbasioglu (19)
Klaus Zerres (20)
J枚rg D枚tsch (1)
Franz Schaefer (7)
Max Christoph Liebau (1) (21) (22)
ESCAPE Study Group
GPN Study Group

1. Department of Pediatrics
; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
2. Department of Pediatrics
; University Hospital Bonn ; Adenauerallee 119 ; 53113 ; Bonn ; Germany
3. Department of Pediatric Nephrology
; University Hospital Vall d鈥橦ebron ; Pg/Vall d鈥?Hebron 119-129 ; 08034 ; Barcelona ; Spain
4. Bioscientia Center for Human Genetics
; Konrad-Adenauer-Stra脽e 17 ; 55218 ; Ingelheim ; Germany
5. Renal Division
; Department of Medicine ; University Freiburg Medical Center ; Hugstetter Stra脽e 55 ; 79106 ; Freiburg ; Germany
6. Institute of Pathology
; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
7. Division of Pediatric Nephrology
; University Children鈥檚 Hospital Heidelberg ; Im Neuenheimer Feld 430 ; 69120 ; Heidelberg ; Germany
8. Department of Pediatrics
; Division of Pediatric Nephrology ; Hacettepe University Faculty of Medicine ; Sihhiye ; 06100 ; Ankara ; Turkey
9. Department of Pediatric Kidney
; Liver and Metabolic Diseases ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
10. Hannover Unified Biobank
; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
11. Institute for Human Genetics
; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
12. Vilnius University Hospital
; Center for Pediatrics ; Santariskiu ; 08406 ; Vilnius ; Lithuania
13. Department of General Pediatrics
; University Hospital Mnster ; Waldeyerstr. 22 ; 48149 ; Muenster ; Germany
14. The Children鈥檚 Memorial Health Institute
; Al. Dzieci Polskich 20 ; 04-730 ; Warsaw ; Poland
15. Department of Pediatric Nephrology
; University Hospitals Leuven ; Herestrtaat 49 ; 3000 ; Leuven ; Belgium
16. Service de N茅phrologie P茅diatrique
; Hospices Civils de Lyon ; Universit茅 de Lyon ; H么pital Femme M猫re Enfant ; 69677 ; Bron ; France
17. Institute of Medical Biometry and Informatics
; University of Heidelberg ; Im Neuenheimer Feld 305 ; 69120 ; Heidelberg ; Germany
18. Pediatric Nephrology Unit
; Fondazione IRCCS Ca Granda Ospedale Maggiore Polic ; Via della Commenda 9 ; 20122 ; Milano ; Italy
19. Department of Medical Biology
; Center for Biobanking and Genomics ; Hacettepe University ; Ankara ; Turkey
20. Institute of Human Genetics
; RWTH University Hospital Aachen ; Pauwelsstrasse 30 ; 52074 ; Aachen ; Germany
21. Center for Molecular Medicine
; University Hospital of Cologne ; Robert-Koch-Str. 21 ; 50931 ; Cologne ; Germany
22. Nephrology Research Laboratory
; Department II of Internal Medicine ; University Hospital of Cologne ; CECAD Building ; Joseph-Stelzmann-Str. 26 ; 50931 ; Cologne ; Germany
刊名:BMC Nephrology
出版年:2015
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