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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.
Published in:
Clinical Genetics, 2017, v. 92, n. 5, p. 534, doi. 10.1111/cge.13008
By:
- Ozes, B.;
- Karagoz, N.;
- Schüle, R.;
- Rebelo, A.;
- Sobrido, M.‐J.;
- Harmuth, F.;
- Synofzik, M.;
- Pascual, S.I.P.;
- Colak, M.;
- Ciftci‐Kavaklioglu, B.;
- Kara, B.;
- Ordóñez‐Ugalde, A.;
- Quintáns, B.;
- Gonzalez, M.A.;
- Soysal, A.;
- Zuchner, S.;
- Battaloglu, E.
Publication type:
Article
High frequency of GJA12/ GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
Published in:
Clinical Genetics, 2013, v. 83, n. 1, p. 66, doi. 10.1111/j.1399-0004.2012.01846.x
By:
- Bilir, B;
- Yapici, Z;
- Yalcinkaya, C;
- Baris, I;
- Carvalho, CMB;
- Bartnik, M;
- Ozes, B;
- Eraksoy, M;
- Lupski, JR;
- Battaloglu, E
Publication type:
Article