検索結果 - Dominika Zabloka

<i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement 著者: Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Lončarević, Vlatka Mejaški‐Bošnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo Salpietro, Sabrina Signorini, Gilda Stringini, Alain Verloès, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente