Results
|
1.
|
|
|
2.
|
|
|
3.
|
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. [electronic resource] by
- Pepe, Guglielmina
- de Visser, Marianne
- Bertini, Enrico
- Bushby, Kate
- Vanegas, Olga Camacho
- Chu, Mon Li
- Lattanzi, Giovanna
- Merlini, Luciano
- Muntoni, Francesco
- Urtizberea, Andoni
Producer: 20020322
In:
Neuromuscular disorders : NMD vol. 12
Availability: No items available.
|
|
4.
|
|
|
5.
|
|
|
6.
|
|
|
7.
|
|
|
8.
|
|
|
9.
|
|
|
10.
|
|
|
11.
|
|
|
12.
|
|
|
13.
|
|
|
14.
|
|
|
15.
|
|
|
16.
|
Inflammatory myopathy in a patient with collagen VI mutations. [electronic resource] by
- Papa, R
- Fiorillo, C
- Malattia, C
- Minoia, F
- Caorsi, R
- Assereto, S
- Iacomino, M
- Savarese, M
- Nigro, V
- Bruno, C
- Minetti, C
- Picco, P
Producer: 20180402
In:
Scandinavian journal of rheumatology vol. 47
Availability: No items available.
|
|
17.
|
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. [electronic resource] by
- Cummings, Beryl B
- Marshall, Jamie L
- Tukiainen, Taru
- Lek, Monkol
- Donkervoort, Sandra
- Foley, A Reghan
- Bolduc, Veronique
- Waddell, Leigh B
- Sandaradura, Sarah A
- O'Grady, Gina L
- Estrella, Elicia
- Reddy, Hemakumar M
- Zhao, Fengmei
- Weisburd, Ben
- Karczewski, Konrad J
- O'Donnell-Luria, Anne H
- Birnbaum, Daniel
- Sarkozy, Anna
- Hu, Ying
- Gonorazky, Hernan
- Claeys, Kristl
- Joshi, Himanshu
- Bournazos, Adam
- Oates, Emily C
- Ghaoui, Roula
- Davis, Mark R
- Laing, Nigel G
- Topf, Ana
- Kang, Peter B
- Beggs, Alan H
- North, Kathryn N
- Straub, Volker
- Dowling, James J
- Muntoni, Francesco
- Clarke, Nigel F
- Cooper, Sandra T
- Bönnemann, Carsten G
- MacArthur, Daniel G
Producer: 20170626
In:
Science translational medicine vol. 9
Availability: No items available.
|
|
18.
|
|
|
19.
|
|
|
20.
|
|