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1 Ergebnisse
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Clinical variability in DYNC2H1-related skeletal ciliopathi..:
Piceci-Sparascio, Francesca
;
Micale, Lucia
;
Torres, Barbara
...
European Journal of Human Genetics. 31 (2023) 4 - p. 479-484 , 2023
Link:
https://doi.org/10.1038/s41431-022-01276-7
RT Journal T1
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41431-022-01276-7&Exemplar=1&LAN=DE A1 Piceci-Sparascio, Francesca A1 Micale, Lucia A1 Torres, Barbara A1 Guida, Valentina A1 Consoli, Federica A1 Torrente, Isabella A1 Onori, Annamaria A1 Frustaci, Emanuela A1 D'Asdia, Maria Cecilia A1 Petrizzelli, Francesco A1 Bernardini, Laura A1 Mancini, Cecilia A1 Soli, Fiorenza A1 Cocciadiferro, Dario A1 Guadagnolo, Daniele A1 Mastromoro, Gioia A1 Putotto, Carolina A1 Fontana, Franco A1 Brunetti-Pierri, Nicola A1 Novelli, Antonio A1 Pizzuti, Antonio A1 Marino, Bruno A1 Digilio, Maria Cristina A1 Mazza, Tommaso A1 Dallapiccola, Bruno A1 Ruiz-Perez, Victor Luis A1 Tartaglia, Marco A1 Castori, Marco A1 De Luca, Alessandro PB Springer Science and Business Media LLC YR 2023 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 31 IS 4 SP 479 OP 484 LK http://dx.doi.org/https://doi.org/10.1038/s41431-022-01276-7 DO https://doi.org/10.1038/s41431-022-01276-7 SF ELIB - SuUB Bremen
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