Results
|
|
221.
|
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. [electronic resource] by
- Flanigan, Kevin M
- Dunn, Diane M
- von Niederhausern, Andrew
- Soltanzadeh, Payam
- Howard, Michael T
- Sampson, Jacinda B
- Swoboda, Kathryn J
- Bromberg, Mark B
- Mendell, Jerry R
- Taylor, Laura E
- Anderson, Christine B
- Pestronk, Alan
- Florence, Julaine M
- Connolly, Anne M
- Mathews, Katherine D
- Wong, Brenda
- Finkel, Richard S
- Bonnemann, Carsten G
- Day, John W
- McDonald, Craig
- Weiss, Robert B
Producer: 20120327
In:
Human mutation vol. 32
Availability: No items available.
|
|
|
222.
|
|
|
|
223.
|
|
|
|
224.
|
|
|
|
225.
|
|
|
|
226.
|
A new mutation of ANO6 in two familial cases of Scott syndrome. [electronic resource] by
- Boisseau, Pierre
- Bene, Marie C
- Besnard, Thomas
- Pachchek, Sinthuja
- Giraud, Mathilde
- Talarmain, Patricia
- Robillard, Nelly
- Gourlaouen, Marie A
- Bezieau, Stéphane
- Fouassier, Marc
Producer: 20190102
In:
British journal of haematology vol. 180
Availability: No items available.
|
|
|
227.
|
|
|
|
228.
|
|
|
|
229.
|
Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. [electronic resource] by
- Pastorino, L
- Cusano, R
- Baldo, C
- Forzano, F
- Nasti, S
- Di Rocco, M
- Carta, M
- Bricarelli, F Dagna
- Faravelli, F
- Scarrà, G Bianchi
Producer: 20050707
In:
Child: care, health and development vol. 31
Availability: No items available.
|
|
|
230.
|
|
|
|
231.
|
|
|
|
232.
|
|
|
|
233.
|
|
|
|
234.
|
|
|
|
235.
|
|
|
|
236.
|
|
|
|
237.
|
|
|
|
238.
|
|
|
|
239.
|
|
|
|
240.
|
|