Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype

by Stephan Kemeny, Florence Brugnon, Eléonore Eymard-Pierre, Carole Goumy, Laurent Janny, Andreï Tchirkov, Christine Francannet, Philippe Vago, Céline Pebrel-Richard
Published 2017-01-01

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

by Endika Haro, Florence Petit, Charmaine U. Pira, Conor D. Spady, Sara Lucas-Toca, Lauren I. Yorozuya, Austin L. Gray, Fabienne Escande, Anne-Sophie Jourdain, Andy Nguyen, Florence Fellmann, Jean-Marc Good, Christine Francannet, Sylvie Manouvrier-Hanu, Marian A. Ros, Kerby C. Oberg
Published 2021-09-01