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Results: 1-3 |
Results: 3
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Authors: Baumann, Matthias Giunta, Cecilia Krabichler, Birgit Rüschendorf, Franz Fauth, Christine
Citation: Baumann, Matthias et al., Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss, American journal of human genetics (Online) AJHG , 90(2), 2012, pp. 201-216
Mutations in the Gene Encoding Gap Junction Protein .12 (Connexin 46.6) Cause Pelizaeus-Merzbacher.Like Disease
Authors: Uhlenberg, Birgit Schuelke, Markus Rüschendorf, Franz Ruf, Nico Kaindl, Angela M. Henneke, Marco Thiele, Holger Stoltenburg-Didinger, Gisela Aksu, Fuat Topalo.lu, Haluk Nürnberg, Peter Hübner, Christoph Weschke, Bernhard Gärtner, Jutta
Citation: Uhlenberg, Birgit et al., Mutations in the Gene Encoding Gap Junction Protein .12 (Connexin 46.6) Cause Pelizaeus-Merzbacher.Like Disease, American journal of human genetics , 75(2), 2004, pp. 251-260
Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator
Authors: Thiel, Christian T. Horn, Denise Zabel, Bernhard Ekici, Arif B. Salinas, Kelly Gebhart, Erich Rüschendorf, Franz Spranger, Jürgen Müller, Dietmar Zweier, Christiane Schmitt, Mark E. Reis, André Rauch, Anita
Citation: T. Thiel, Christian et al., Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator, American journal of human genetics , 77(5), 2005, pp. 795-806
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