Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

von Kimonis, Virginia E., Kovach, Margaret J., Waggoner, Brook, Leal, Suzanne, Salam, Ambar, Rimer, Lisa, Davis, Katherine, Khardori, Romesh, Gelber, David
Veröffentlicht in Genet Med (2000)

A Novel Locus (DFNA24) for Prelingual Nonprogressive Autosomal Dominant Nonsyndromic Hearing Loss Maps to 4q35-qter in a Large Swiss German Kindred

von Häfner, Franziska M., Salam, Ambar A., Linder, Thomas E., Balmer, Damina, Baumer, Allessandra, Schinzel, Albert A., Spillmann, Thomas, Leal, Suzanne M.
Veröffentlicht 2000