Segregating Reciprocal (4;21) (q21;q21) Translocation with Proposita Trisomic for Parts of 4q and 21

Por Chapelle, Albert De La, Koivisto, Maila, Schröder, Jim
Publicado em 1973

A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition

Por Tomsic, Jerneja, He, Huiling, Akagi, Keiko, Liyanarachchi, Sandya, Pan, Qun, Bertani, Blake, Nagy, Rebecca, Symer, David E., Blencowe, Benjamin J., Chapelle, Albert de la
Publicado no Sci Rep (2015)

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Por Kolehmainen, Juha, Black, Graeme C. M., Saarinen, Anne, Chandler, Kate, Clayton-Smith, Jill, Träskelin, Ann-Liz, Perveen, Rahat, Kivitie-Kallio, Satu, Norio, Reijo, Warburg, Mette, Fryns, Jean-Pierre, Chapelle, Albert de la, Lehesjoki, Anna-Elina
Publicado em 2003