Results
|
11621.
|
|
|
11622.
|
Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. [electronic resource] by
- Rowe, Steven M
- Heltshe, Sonya L
- Gonska, Tanja
- Donaldson, Scott H
- Borowitz, Drucy
- Gelfond, Daniel
- Sagel, Scott D
- Khan, Umer
- Mayer-Hamblett, Nicole
- Van Dalfsen, Jill M
- Joseloff, Elizabeth
- Ramsey, Bonnie W
Producer: 20140908
In:
American journal of respiratory and critical care medicine vol. 190
Availability: No items available.
|
|
11623.
|
|
|
11624.
|
|
|
11625.
|
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. [electronic resource] by
- Bessa, C
- Teixeira, C A F
- Mangas, M
- Dias, A
- Sá Miranda, M C
- Guimarães, A
- Ferreira, J C
- Canas, N
- Cabral, P
- Ribeiro, M G
Producer: 20061213
In:
Molecular genetics and metabolism vol. 89
Availability: No items available.
|
|
11626.
|
|
|
11627.
|
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. [electronic resource] by
- Teixeira, Carla
- Guimarães, António
- Bessa, Carlos
- Ferreira, Maria José
- Lopes, Lurdes
- Pinto, Eugénia
- Pinto, Rui
- Boustany, Rose-Mary
- Sá Miranda, Maria Clara
- Ribeiro, Maria Gil
Producer: 20030827
In:
Journal of neurology vol. 250
Availability: No items available.
|
|
11628.
|
|
|
11629.
|
|