14 results

> Ergebnisse

Skip to contents

Human mutation : variation, databases, and disease

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Hoboken, NJ: Wiley-Blackwell, 1992- ; New York, NY [u.a.]: Wiley-Liss, anfangs / 1.1992 -
Rautenstrauß, Bernd [Author]

Hereditäre motorische und sensible Neuropathien : experimentelle Beiträge zur Charakterisierung der ursächlichen Mutationen und ihrer phänotypischen Auswirkungen - [Als Ms. gedr.]

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Aachen: Shaker, 1999

Published in: Berichte aus der Medizin
Schulz, Alexander [Author] ; Rolfs, Arndt [Other]; Klein, Christine [Other]; Kundt, Günther [Other]

Beschreibung und Vergleich der weltweit größten Kohorte mit Pantothenatkinase-assoziierter Neurodegeneration

View online
Schließen

Access

https://d-nb.info/1293660957/34

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Rostock: Universität Rostock, 2018
Human mutation

View online
Schließen

Access

https://www.hindawi.com/journals/humu/

https://ezb.ur.de/ReadMe?bibid=SLUB&owner=NALIA&anchor=natli_wiley&lang=en

https://ezb.ur.de/detail.phtml?bibid=SLUB&jour_id=1949

https://onlinelibrary.wiley.com/journal/10981004

https://ezb.ur.de/ReadMe?bibid=SLUB&owner=NALIA&anchor=natli_wiley&lang=de

https://ezb.ur.de/ReadMe?bibid=SLUB&owner=WIDEA&anchor=deal_wiley&lang=de

https://ezb.ur.de/detail.phtml?bibid=SLUB&jour_id=495536

http://www.onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004

https://ezb.ur.de/ReadMe?bibid=SLUB&owner=WIDEA&anchor=deal_wiley&lang=en

https://ezb.ur.de/?1498165-8

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

London: Hindawi Limited, 1992- ; New York, NY [u.a.]: Wiley-Liss, 1992-2022 / 1.1992 -
Erdmann, Hannes [Author] ; Abicht, Angela [Degree supervisor]

The genetics of repeat disorders : development of novel long-read sequencing methods and phenotype-genotype studies

View online
Schließen

Access

https://d-nb.info/1309618011/34

kostenfrei

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

München: Universitätsbibliothek der Ludwig-Maximilians-Universität, 2023
Wittke, Christina Maria [Author] ; Klein, Christine [Degree supervisor]; Gebauer, Niklas [Degree supervisor]

Genotyp-Phänotyp-Beziehungen der mit klinisch atypischen Parkinsonerkrankungen assoziierten Gene

View online
Schließen

Access

https://d-nb.info/1270324233/34

kostenfrei

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Lübeck: Zentrale Hochschulbibliothek Lübeck, 2022
Köhne, Nora Laureen [Author] ; Hoffjan, Sabine [Other]; Miterski, Bianca [Other] Medizinische Fakultät

Analyse der Exomsequenz von Kindern und Jugendlichen mit unklaren syndromalen und globalen Entwicklungsstörungen

View online
Schließen

Access

https://d-nb.info/1295192268/34

kostenfrei

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Bochum: Ruhr-Universität Bochum, 2023
Kalb, Reinhard [Author]

Fanconi anemia and RAD50 deficiency : genetic and functional analysis

View online
Schließen

Access

https://d-nb.info/1000496570/34

kostenfrei

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Online-Ausg.:: 2008, [2008]
Popović, Nikola [Author]

Mutationsanalyse im Caveolin- 3 Gen bei 48 Patienten mit einem Rippling-muscle-disease-(RMD)-Phänotyp

View online
Schließen

Access

https://d-nb.info/975364987/34

kostenfrei

http://www-brs.ub.ruhr-uni-bochum.de/netahtml/HSS/Diss/PopovicNikola/

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.
Lukas, Jan [Author]

Characterisation of novel α-galactosidase A mutations in Fabry disease based on in vitro, in vivo and pharmacological data

View online
Schließen

Access

http://rosdok.uni-rostock.de/resolve?urn=urn:nbn:de:gbv:28-diss2014-0107-1&pdf

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

2013
Haverkamp, Lars Christian Arndt Simon [Author]

Mitochondriale Zytopathien : Aufarbeitung der unterschiedlichen Pathogenese ausgewählter mitochondrialer Zytopathien anhand von zwei Fallbeispielen

View online
Schließen

Access

https://d-nb.info/992055261/34

kostenfrei

http://darwin.bth.rwth-aachen.de/opus3/volltexte/2008/2471/

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.
Röll, Dorothee [Author]

Morphologische und funktionelle Charakterisierung eines Mausmodells der Augenkrankheit Retinitis Pigmentosa aufgrund einer Mutation im Rpgr Gen

View online
Schließen

Access

https://d-nb.info/1068591285/34

kostenfrei

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Gießen: Universitätsbibliothek, 2014

Published in: Edition scientifique
Wolff, Jürn [Author]

Kognition, Gehirnstruktur und Gehirnfunktion bei präsymptomatischen Trägern der Huntington-Genmutation: Eine 2-Jahres-Follow-up-Studie

View online
Schließen

Access

More information on the full text

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

2013
Englet, Beate [Author]

Untersuchung des präfrontalen Kortex und der Arbeitsgedächtnisfunktion bei präsymptomatischen Trägern der Huntington-Genmutation

View online
Schließen

Access

More information on the full text

Show more show less

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

2009

You did not find what you were looking for?

Purchase suggestion
Are you missing something you need for your research? If you have any suggestions please share them here.

Interlibrary Loan
Please search and order your favorite title in the Interlibrary Loan Portal.