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Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).
Published in:
1999
By:
- Rapola, Juhani;
- Lähdetie, Jaana;
- Isosomppi, Juha;
- Helminen, Päivi;
- Penttinen, Maila;
- Järvelä, Irma;
- Rapola, J;
- Lähdetie, J;
- Isosomppi, J;
- Helminen, P;
- Penttinen, M;
- Järvelä, I
Publication type:
journal article
Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 1, p. 30, doi. 10.1038/ejhg.2010.140
By:
- Västinsalo, Hanna;
- Jalkanen, Reetta;
- Dinculescu, Astra;
- Isosomppi, Juha;
- Geller, Scott;
- Flannery, John G.;
- Hauswirth, William W.;
- Sankila, Eeva-Marja
Publication type:
Article
CLRN1 Is Nonessential in the Mouse Retina but Is Required for Cochlear Hair Cell Development.
Published in:
PLoS Genetics, 2009, v. 5, n. 8, p. 1, doi. 10.1371/journal.pgen.1000607
By:
- Geller, Scott F.;
- Guerin, Karen I.;
- Visel, Meike;
- Pham, Aaron;
- Lee, Edwin S.;
- Dror, Amiel A.;
- Avraham, Karen B.;
- Hayashi, Toshinori;
- Ray, Catherine A.;
- Reh, Thomas A.;
- Bermingham-McDonogh, Olivia;
- Triffo, William J.;
- Shaowen Bao;
- Isosomppi, Juha;
- Västinsalo, Hanna;
- Sankila, Eeva-Marja;
- Flannery, John G.
Publication type:
Article
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
Published in:
Human Molecular Genetics, 2002, v. 11, n. 8, p. 885, doi. 10.1093/hmg/11.8.885
By:
- Isosomppi, Juha;
- Vesa, Jouni;
- Jalanko, Anu;
- Peltonen, Leena
Publication type:
Article

Found: 4

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).

CLRN1 Is Nonessential in the Mouse Retina but Is Required for Cochlear Hair Cell Development.

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.