Search Results - "Rimer, Lisa A."

A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness by Kovach, Margaret J., Lin, Jing-Ping, Boyadjiev, Simeon, Campbell, Kathleen, Mazzeo, Larry, Herman, Kristin, Rimer, Lisa A., Frank, William, Llewellyn, Barbara, Wang Jabs, Ethylin, Gelber, David, Kimonis, Virginia E.

“…Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large…”
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Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency by Zori, Roberto T., Boyar, Fatih Z., Williams, William N., Gray, Brian A., Bent-Williams, Angela, Stalker, Heather J., Rimer, Lisa A., Nackashi, John A., Driscoll, Daniel J., Rasmussen, Sonja A., Dixon-Wood, Virginia, Williams, Charles A.

“…Velo‐cardio‐facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect…”
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