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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
Published in:
Human Genetics, 2007, v. 121, n. 6, p. 685, doi. 10.1007/s00439-007-0362-y
By:
- van Reeuwijk, Jeroen;
- Grewal, Prabhjit K.;
- Salih, Mustafa A. M.;
- de Bernabé, Daniel Beltrán-Valero;
- McLaughlan, Jenny M.;
- Michielse, Caroline B.;
- Herrmann, Ralf;
- Ewitt, Jane E.;
- Steinbrecher, Alice;
- Seidahmed, Mohamed Z.;
- Shaheed, Mohamed M.;
- Abomelha, Abdullah;
- Brunner, Han G.;
- van Bokhoven, Hans;
- Voit, Thomas
Publication type:
Article
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker–Warburg syndrome.
Published in:
Neuropathology, 2008, v. 28, n. 3, p. 333, doi. 10.1111/j.1440-1789.2007.00856.x
By:
- Ulfig, Norbert;
- Steinbrecher, Alice;
- Stoltenburg-Didinger, Gisela;
- Rezaie, Payam
Publication type:
Article
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2123, doi. 10.1093/brain/awq108
By:
- Cirak, Sebahattin;
- von Deimling, Florian;
- Sachdev, Shrikesh;
- Errington, Wesley J.;
- Herrmann, Ralf;
- Bönnemann, Carsten;
- Brockmann, Knut;
- Hinderlich, Stephan;
- Lindner, Tom H.;
- Steinbrecher, Alice;
- Hoffmann, Katrin;
- Privé, Gilbert G.;
- Hannink, Mark;
- Nürnberg, Peter;
- Voit, Thomas
Publication type:
Article
Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 5, p. 527, doi. 10.1093/hmg/ddg043
By:
- Taniguchi, Kiyomi;
- Kobayashi, Kazuhiro;
- Saito, Kayoko;
- Yamanouchi, Hideo;
- Ohnuma, Akira;
- Hayashi, Yukiko K.;
- Manya, Hiroshi;
- Jin, Dong Kyu;
- Lee, Munhyang;
- Parano, Enrico;
- Falsaperla, Raffaele;
- Pavone, Piero;
- Van Coster, Rudy;
- Talim, Beril;
- Steinbrecher, Alice;
- Straub, Volker;
- Nishino, Ichizo;
- Topaloglu, Haluk;
- Voit, Thomas;
- Endo, Tamao
Publication type:
Article

Found: 4

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker–Warburg syndrome.

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.

Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease.