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Entries: 1-6  
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Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
Authors: Hoefele, Julia; Sudbrak, Ralf; Reinhardt, Richard; Lehrack, Silvia; Hennig, Steffen; Imm, Anita; Muerb, Ulla; Utsch, Boris; Attanasio, Massimo; O'Toole, John F.; Otto, Edgar; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-03-17
Title of Journal: Human Mutation
Volume: 25
Issue / Number: 4
Start Page: 411
End Page: 411
Document Type: Article
ID: 271580.0
 
Full text / Content available
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
Authors: Hoefele, Julia; Sudbrak, Ralf; Reinhardt, Richard; Lehrack, Silvia; Hennig, Steffen; Imm, Anita; Muerb, Ulla; Utsch, Boris; Attanasio, Massimo; O'Toole, John F.; Otto, Edgar; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-03-17
Title of Journal: Human Mutation
Volume: 25
Issue / Number: 4
Start Page: 411
End Page: 411
Document Type: Article
ID: 272860.0
 
Full text / Content available
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
Authors: Olbrich, Heike; Fliegauf, Manfred; Hoefele, Julia; Kispert, Andreas; Otto, Edgar; Volz, Andreas; Wolf, Matthias T.; Sasmaz, Gürsel; Trauer, Ute; Reinhardt, Richard; Sudbrak, Ralf; Antignac, Corinne; Gretz, Norbert; Walz, Gerd; Schermer, Bernhard; Benzing, Thomas; Hildebrandt, Friedhelm; Omran, Heymut
Date of Publication (YYYY-MM-DD): 2003-08
Title of Journal: Nature Genetics
Volume: 34
Issue / Number: 4
Start Page: 455
End Page: 459
Document Type: Article
ID: 173903.0
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
Authors: Otto, Edgar; Hoefele, Julia; Ruf, Rainer; Mueller, Adelheid M.; Hiller, Karl S.; Wolf, Matthias T. F.; Schuermann, Maria J.; Becker, Achim; Birkenhäger, Ralf; Sudbrak, Ralf; Hennies, Hans C.; Nürnberg, Peter; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2002-08-29
Title of Journal: American Journal of Human Genetics
Volume: 71
Issue / Number: 5
Start Page: 1161
End Page: 1167
Document Type: Article
ID: 25645.0
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
Authors: Otto, Edgar; Hoefele, Julia; Ruf, Rainer; Mueller, Adelheid M.; Hiller, Karl S.; Wolf, Matthias T. F.; Schuermann, Maria J.; Becker, Achim; Birkenhäger, Ralf; Sudbrak, Ralf; Hennies, Hans C.; Nürnberg, Peter; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2002-08-29
Title of Journal: American Journal of Human Genetics
Volume: 71
Issue / Number: 5
Start Page: 1161
End Page: 1167
Document Type: Article
ID: 27223.0
Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36
Authors: Schuermann, Maria J.; Otto, Edgar; Becker, Achim; Saar, Katrin; Rüschendorf, Franz; Polak, Bettine C.; Ala-Mello, Sirpa; Hoefele, Julia; Wiedensohler, Alexander; Haller, Maria; Omran, Heymut; Nürnberg, Peter; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2002-03-27
Title of Journal: American Journal of Human Genetics
Volume: 70
Issue / Number: 5
Start Page: 1240
End Page: 1246
Document Type: Article
ID: 26832.0
Entries: 1-6  
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