Search Results - "Waris, Laura"

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone by Kopra, Outi, Udd, Bjarne, Kalimo, Hannu, Tranebjaerg, Lisbeth, Anttonen, Mikko, Eeg-Olofsson, Orvar, Joensuu, Tarja, Mahjneh, Ibrahim, Hämäläinen, Riikka H, Anttonen, Anna-Kaisa, Chaigne, Denys, Koenig, Michel, Lagier-Tourenne, Clotilde, Lehesjoki, Anna-Elina, Waris, Laura, Somer, Hannu, Paetau, Anders, Somer, Mirja

“…We identified the gene underlying Marinesco-Sjögren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified…”
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Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen by Kolehmainen, Juha, Wilkinson, Robert, Lehesjoki, Anna-Elina, Chandler, Kate, Kivitie-Kallio, Satu, Clayton-Smith, Jill, Träskelin, Ann-Liz, Waris, Laura, Saarinen, Anne, Khan, Jabbar, Gross-Tsur, Varda, Traboulsi, Elias I., Warburg, Mette, Fryns, Jean-Pierre, Norio, Reijo, C. M. Black, Graeme, D. C. Manson, Forbes

“…Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The…”
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The gene disrupted in Marinesco-Sjoegren syndrome encodes SIL1, an HSPA5 cochaperone by Anttonen, Anna-Kaisa, Mahjneh, Ibrahim, Haemaelaeinen, Riikka H, Lagier-Tourenne, Clotilde, Kopra, Outi, Waris, Laura, Anttonen, Mikko, Joensuu, Tarja, Kalimo, Hannu, Paetau, Anders, Tranebjaerg, Lisbeth, Chaigne, Denys, Koenig, Michel, Eeg-Olofsson, Orvar, Udd, Bjarne, Somer, Mirja, Somer, Hannu, Lehesjoki, Anna-Elina

“…We identified the gene underlying Marinesco-Sjoegren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified…”
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