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Entries: 1-10  
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NOA1 is an essential GTPase required for mitochondrial protein synthesis
Authors: Kolanczyk, M.; Pech, M.; Zemojtel, T.; Yamamoto, H.; Mikula, I.; Calvaruso, M. A.; van den Brand, M.; Richter, R.; Fischer, B.; Ritz, A.; Kossler, N.; Thurisch, B.; Spoerle, R.; Smeitink, J.; Kornak, U.; Chan, D.; Vingron, M.; Martasek, P.; Lightowlers, R. N.; Nijtmans, L.; Schuelke, M.; Nierhaus, K. H.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2011-01-01
Title of Journal: Mol Biol Cell
Volume: 22
Issue / Number: 1
Start Page: 1
End Page: 11
Document Type: Article
ID: 538378.0
The 2nd Berlin BedRest Study: protocol and implementation
Authors: Belavy, D. L.; Bock, O.; Borst, H.; Armbrecht, G.; Gast, U.; Degner, C.; Beller, G.; Soll, H.; Salanova, M.; Habazettl, H.; Heer, M.; de Haan, A.; Stegeman, D. F.; Cerretelli, P.; Blottner, D.; Rittweger, J.; Gelfi, C.; Kornak, U.; Felsenberg, D.
Date of Publication (YYYY-MM-DD): 2010-09-01
Title of Journal: Journal of Musculoskeletal and Neuronal Interaction
Volume: 10
Issue / Number: 3
Start Page: 207
End Page: 219
Document Type: Article
ID: 539710.0
 
Full text / Content available
Severe developmental bone phenotype in ClC-7 deficient mice.
Authors: Neutzsky-Wulff, A. V.; Sims, N. A.; Supanchart, C.; Kornak, U.; Felsenberg, D.; Poulton, I. J.; Martin, T. J.; Karsdal, M. A.; Henriksen, K.
Date of Publication (YYYY-MM-DD): 2010-08-15
Title of Journal: Developmental Biology
Volume: 344
Issue / Number: 2
Start Page: 1001
End Page: 1010
Document Type: Article
ID: 539716.0
 
Full text / Content available
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
Authors: Brancati, F.; Fortugno, P.; Bottillo, I.; Lopez, M.; Josselin, E.; Boudghene-Stambouli, O.; Agolini, E.; Bernardini, L.; Bellacchio, E.; Iannicelli, M.; Rossi, A.; Dib-Lachachi, A.; Stuppia, L.; Palka, G.; Mundlos, S.; Stricker, S.; Kornak, U.; Zambruno, G.; Dallapiccola, B.
Date of Publication (YYYY-MM-DD): 2010-08-13
Title of Journal: American Journal of Human Genetics
Volume: 87
Issue / Number: 2
Start Page: 265
End Page: 273
Document Type: Article
ID: 539722.0
 
Full text / Content available
Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.
Authors: Weinert, S.; Jabs, S.; Supanchart, C.; Schweizer, M.; Gimber, N.; Richter, M.; Rademann, J.; Stauber, T.; Kornak, U.; Jentsch, T. J.
Date of Publication (YYYY-MM-DD): 2010-06-11
Title of Journal: Science
Volume: 328
Issue / Number: 5984
Start Page: 1401
End Page: 1403
Document Type: Article
ID: 541196.0
 
Full text / Content available
Heritable sclerosing bone disorders: presentation and new molecular mechanisms.
Authors: de Vernejoul, M. C.; Kornak, U.
Date of Publication (YYYY-MM-DD): 2010-04-05
Title of Journal: Annals of the New York Academy of Sciences
Volume: 1192
Start Page: 269
End Page: 277
Document Type: Article
ID: 541902.0
 
Full text / Content available
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.
Authors: Phadke, S. R.; Fischer, B.; Gupta, N.; Ranganath, P.; Kabra, M.; Kornak, U.
Date of Publication (YYYY-MM-DD): 2010-04-01
Title of Journal: Indian J Med Res
Volume: 131
Start Page: 508
End Page: 514
Document Type: Article
ID: 541484.0
 
Full text / Content available
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
Authors: Kornak, U.; Brancati, F.; Le Merrer, M.; Lichtenbelt, K.; Höhne, W.; Tinschert, S.; Garaci, F. G.; Dallapiccola, B.; Nürnberg, P.
Date of Publication (YYYY-MM-DD): 2010-03-26
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 4
Start Page: 870
End Page: 874
Document Type: Article
ID: 541590.0
 
Full text / Content available
Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.
Authors: Kunte, H.; Trendelenburg, G.; Matzen, J.; Ventz, M.; Kornak, U.; Harms, L.
Date of Publication (YYYY-MM-DD): 2010-03-01
Title of Journal: Neuro Endocrinology Letters
Volume: 31
Issue / Number: 3
Start Page: 301
End Page: 303
Document Type: Article
ID: 541923.0
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
Authors: Hennies, H. C.; Kornak, U.; Zhang, H. K.; Egerer, J.; Zhang, X.; Seifert, W.; Kuhnisch, J.; Budde, B.; Natebus, M.; Brancati, F.; Wilcox, W. R.; Muller, D.; Kaplan, P. B.; Rajab, A.; Zampino, G.; Fodale, V.; Dallapiccola, B.; Newman, W.; Metcalfe, K.; Clayton-Smith, J.; Tassabehji, M.; Steinmann, B.; Barr, F. A.; Nurnberg, P.; Wieacker, P.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2008-12
Title of Journal: Nature Genetics
Volume: 40
Issue / Number: 12
Start Page: 1410
End Page: 1412
Document Type: Article
ID: 397157.0
Entries: 1-10  
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