Motta, Marialetizia ;
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Bonnard, Adeline A...
Motta , M , Solman , M , Bonnard , A A , Kuechler , A , Pantaleoni , F , Priolo , M , Chandramouli , B , Coppola , S , Pizzi , S , Zara , E , Ferilli , M , Kayserili , H , Onesimo , R , Leoni , C , Brinkmann , J , Vial , Y , Kamphausen , S B , Thomas-Teinturier , C , Guimier , A , Cordeddu , V , Mazzanti , L , Zampino , G , Chillemi , G , Zenker , M , Cavé , H , den Hertog , J & Tartaglia , M 2022 , ' Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome ' , Human Molecular Genetics , vol. 31 , no. 16 , pp. 2766-2778 . https://doi.org/10.1093/hmg/ddac071.
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2022