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Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations

✍ Scribed by Isidor, Bertrand; Lefebvre, Tiphaine; Le Vaillant, Claudine; Caillaud, Gaëlle; Faivre, Laurence; Jossic, Frédéric; Joubert, Madeleine; Winer, Norbert; Le Caignec, Cédric; Borck, Guntram; Pelet, Anna; Amiel, Jeanne; Toutain, Annick; Ronce, Nathalie; Raynaud, Martine; Verloes, Alain; David, Albert


Book ID
123607562
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
181 KB
Volume
164
Category
Article
ISSN
1552-4825

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