Results
|
481.
|
|
|
482.
|
|
|
483.
|
|
|
484.
|
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. [electronic resource] by
- Onoufriadis, Alexandros
- Paff, Tamara
- Antony, Dinu
- Shoemark, Amelia
- Micha, Dimitra
- Kuyt, Bertus
- Schmidts, Miriam
- Petridi, Stavroula
- Dankert-Roelse, Jeanette E
- Haarman, Eric G
- Daniels, Johannes M A
- Emes, Richard D
- Wilson, Robert
- Hogg, Claire
- Scambler, Peter J
- Chung, Eddie M K
- Pals, Gerard
- Mitchison, Hannah M
Producer: 20130312
In:
American journal of human genetics vol. 92
Availability: No items available.
|
|
485.
|
|
|
486.
|
|
|
487.
|
|
|
488.
|
|
|
489.
|
|
|
490.
|
|
|
491.
|
|
|
492.
|
|
|
493.
|
|
|
494.
|
|
|
495.
|
|
|
496.
|
|
|
497.
|
|
|
498.
|
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. [electronic resource] by
- Sandaradura, Sarah A
- Bournazos, Adam
- Mallawaarachchi, Amali
- Cummings, Beryl B
- Waddell, Leigh B
- Jones, Kristi J
- Troedson, Christopher
- Sudarsanam, Annapurna
- Nash, Benjamin M
- Peters, Gregory B
- Algar, Elizabeth M
- MacArthur, Daniel G
- North, Kathryn N
- Brammah, Susan
- Charlton, Amanda
- Laing, Nigel G
- Wilson, Meredith J
- Davis, Mark R
- Cooper, Sandra T
Producer: 20190328
In:
Human mutation vol. 39
Availability: No items available.
|
|
499.
|
|
|
500.
|
|