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Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. [electronic resource] by
- Nafisinia, Michael
- Sobreira, Nara
- Riley, Lisa
- Gold, Wendy
- Uhlenberg, Birgit
- Weiß, Claudia
- Boehm, Corinne
- Prelog, Kristina
- Ouvrier, Robert
- Christodoulou, John
Producer: 20171212
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. [electronic resource] by
- Arélin, Maria
- Schulze, Bernt
- Müller-Myhsok, Bertram
- Horn, Denise
- Diers, Alexander
- Uhlenberg, Birgit
- Nürnberg, Peter
- Nürnberg, Gudrun
- Becker, Christian
- Mundlos, Stefan
- Lindner, Tom H
- Sperling, Karl
- Hoffmann, Katrin
Producer: 20130904
In:
European journal of human genetics : EJHG vol. 21
Availability: No items available.
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Mutations in antiquitin in individuals with pyridoxine-dependent seizures. [electronic resource] by
- Mills, Philippa B
- Struys, Eduard
- Jakobs, Cornelis
- Plecko, Barbara
- Baxter, Peter
- Baumgartner, Matthias
- Willemsen, Michèl A A P
- Omran, Heymut
- Tacke, Uta
- Uhlenberg, Birgit
- Weschke, Bernhard
- Clayton, Peter T
Producer: 20060517
In:
Nature medicine vol. 12
Availability: No items available.
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Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. [electronic resource] by
- Uhlenberg, Birgit
- Schuelke, Markus
- Rüschendorf, Franz
- Ruf, Nico
- Kaindl, Angela M
- Henneke, Marco
- Thiele, Holger
- Stoltenburg-Didinger, Gisela
- Aksu, Fuat
- Topaloğlu, Haluk
- Nürnberg, Peter
- Hübner, Christoph
- Weschke, Bernhard
- Gärtner, Jutta
Producer: 20040920
In:
American journal of human genetics vol. 75
Availability: No items available.
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