Résultats de la recherche - RERO DOC

Consortium of Swiss Academic Libraries

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

Chrast, Roman ; Scott, Hamish S. ; Madani, Rime ; Huber, Lars ; Wolfer, David P. ; Prinz, Marco ; Aguzzi, Adriano ; Lipp, Hans-Peter ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2000, vol. 9, no. 12, p. 1853-1864

Consortium of Swiss Academic Libraries

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

Guipponi, Michel ; Vuagniaux, Grégoire ; Wattenhofer, Marie ; Shibuya, Kazunori ; Vazquez, Maria ; Dougherty, Loretta ; Scamuffa, Nathalie ; Guida, Elizabeth ; Okui, Michiyo ; Rossier, Colette ; Hancock, Manuela ; Buchet, Karine ; Reymond, Alexandre ; Hummler, Edith ; Marzella, Phillip L. ; Kudoh, Jun ; Shimizu, Nobuyoshi ; Scott, Hamish S. ; Antonarakis, Stylianos E. ; Rossier, Bernard C.

In: Human Molecular Genetics, 2002, vol. 11, no. 23, p. 2829-2836

Consortium of Swiss Academic Libraries

Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression

Molina, Laurence ; Fasquelle, Lydie ; Nouvian, Régis ; Salvetat, Nicolas ; Scott, Hamish S. ; Guipponi, Michel ; Molina, Franck ; Puel, Jean-Luc ; Delprat, Benjamin

In: Human Molecular Genetics, 2013, vol. 22, no. 7, p. 1289-1299

Consortium of Swiss Academic Libraries

Altered Spacing of Promoter Elements Due to the Dodecamer Repeat Expansion Contributes to Reduced Expression of the Cystatin B Gene in EPM1

Lalioti, Maria D. ; Scott, Hamish S. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 1999, vol. 8, no. 9, p. 1791-1798

Powered by Invenio
/ © Copyright RERO