Contact
| Email: | |
|---|---|
| Phone: | +420 54949 7428 |
| Research group: | Medical Genomics - Šárka Pospíšilová |
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Publications that are part of the Web of Science database, possibly also other publications chosen by authors.
2019
- Doubkova, M; Kozubik, KS; Radova, L; Pesova, M; Trizuljak, J; Pal, K; Svobodova, K; Reblova, K; Svozilova, H; Vrzalova, Z; Pospisilova, S; Doubek, M, 2019: A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia. HUMAN GENOME VARIATION 6, doi: 10.1038/s41439-019-0044-z
2018
- Trizuljak, J; Kozubik, KS; Radova, L; Pesova, M; Pal, K; Reblova, K; Stehlikova, O; Smejkal, P; Zavrelova, J; Pacejka, M; Mayer, J; Pospisilova, S; Doubek, M, 2018: A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. PLATELETS 29(8), p. 827 - 833, doi: 10.1080/09537104.2018.1529300