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GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. [electronic resource] by
- Egerer, Johannes
- Emmerich, Denise
- Fischer-Zirnsak, Björn
- Chan, Wing Lee
- Meierhofer, David
- Tuysuz, Beyhan
- Marschner, Katrin
- Sauer, Sascha
- Barr, Francis A
- Mundlos, Stefan
- Kornak, Uwe
Producer: 20151214
In:
The Journal of investigative dermatology vol. 135
Availability: No items available.
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4.
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An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. [electronic resource] by
- Mackenroth, Luisa
- Fischer-Zirnsak, Björn
- Egerer, Johannes
- Hecht, Jochen
- Kallinich, Tilmann
- Stenzel, Werner
- Spors, Birgit
- von Moers, Arpad
- Mundlos, Stefan
- Kornak, Uwe
- Gerhold, Kerstin
- Horn, Denise
Producer: 20161213
In:
American journal of medical genetics. Part A vol. 170A
Availability: No items available.
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Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. [electronic resource] by
- Chan, Wing Lee
- Steiner, Magdalena
- Witkos, Tomasz
- Egerer, Johannes
- Busse, Björn
- Mizumoto, Shuji
- Pestka, Jan M
- Zhang, Haikuo
- Hausser, Ingrid
- Khayal, Layal Abo
- Ott, Claus-Eric
- Kolanczyk, Mateusz
- Willie, Bettina
- Schinke, Thorsten
- Paganini, Chiara
- Rossi, Antonio
- Sugahara, Kazuyuki
- Amling, Michael
- Knaus, Petra
- Chan, Danny
- Lowe, Martin
- Mundlos, Stefan
- Kornak, Uwe
Producer: 20180710
In:
PLoS genetics vol. 14
Availability: No items available.
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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. [electronic resource] by
- Fischer, Björn
- Dimopoulou, Aikaterini
- Egerer, Johannes
- Gardeitchik, Thatjana
- Kidd, Alexa
- Jost, Dominik
- Kayserili, Hülya
- Alanay, Yasemin
- Tantcheva-Poor, Iliana
- Mangold, Elisabeth
- Daumer-Haas, Cornelia
- Phadke, Shubha
- Peirano, Reto I
- Heusel, Julia
- Desphande, Charu
- Gupta, Neerja
- Nanda, Arti
- Felix, Emma
- Berry-Kravis, Elisabeth
- Kabra, Madhulika
- Wevers, Ron A
- van Maldergem, Lionel
- Mundlos, Stefan
- Morava, Eva
- Kornak, Uwe
Producer: 20130108
In:
Human genetics vol. 131
Availability: No items available.
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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. [electronic resource] by
- Hennies, Hans Christian
- Kornak, Uwe
- Zhang, Haikuo
- Egerer, Johannes
- Zhang, Xin
- Seifert, Wenke
- Kühnisch, Jirko
- Budde, Birgit
- Nätebus, Marc
- Brancati, Francesco
- Wilcox, William R
- Müller, Dietmar
- Kaplan, Paige B
- Rajab, Anna
- Zampino, Giuseppe
- Fodale, Valentina
- Dallapiccola, Bruno
- Newman, William
- Metcalfe, Kay
- Clayton-Smith, Jill
- Tassabehji, May
- Steinmann, Beat
- Barr, Francis A
- Nürnberg, Peter
- Wieacker, Peter
- Mundlos, Stefan
Producer: 20081216
In:
Nature genetics vol. 40
Availability: No items available.
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