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Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. [electronic resource] by
- Parenti, I
- Gervasini, C
- Pozojevic, J
- Graul-Neumann, L
- Azzollini, J
- Braunholz, D
- Watrin, E
- Wendt, K S
- Cereda, A
- Cittaro, D
- Gillessen-Kaesbach, G
- Lazarevic, D
- Mariani, M
- Russo, S
- Werner, R
- Krawitz, P
- Larizza, L
- Selicorni, A
- Kaiser, F J
Producer: 20161013
In:
Clinical genetics vol. 89
Availability: No items available.
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18.
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Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. [electronic resource] by
- Parenti, I
- Gervasini, C
- Pozojevic, J
- Wendt, K S
- Watrin, E
- Azzollini, J
- Braunholz, D
- Buiting, K
- Cereda, A
- Engels, H
- Garavelli, L
- Glazar, R
- Graffmann, B
- Larizza, L
- Lüdecke, H J
- Mariani, M
- Masciadri, M
- Pié, J
- Ramos, F J
- Russo, S
- Selicorni, A
- Stefanova, M
- Strom, T M
- Werner, R
- Wierzba, J
- Zampino, G
- Gillessen-Kaesbach, G
- Wieczorek, D
- Kaiser, F J
Producer: 20170503
In:
Clinical genetics vol. 89
Availability: No items available.
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