DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 06 · June 2017 DOI: 10.1055/s-007-33962

Original Article

061
Bick, David; Fraser, Pamela C.; Gutzeit, Michael F.; Harris, Jeremy M.; Hambuch, Tina M.; Helbling, Daniel C.; Jacob, Howard J.; Kersten, Juliet N.; Leuthner, Steven R.; May, Thomas; North, Paula E.; Prisco, Sasha Z.; Schuler, Bryce A.; Shimoyama, Mary; Strong, Kimberly A.; Van Why, Scott K.; Veith, Regan; Verbsky, James; Weborg, Arthur M.; Wilk, Brandon M.; Willoughby, Rodney E.; Worthey, Elizabeth A.; Dimmock, David P.: Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic
077
Murray, Clark R.; Abel, Samantha N.; McClure, Matthew B.; Foster, Joseph; Walke, Maria I.; Jayakar, Parul; Bademci, Guney; Tekin, Mustafa: Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features
084
Ben Khelifa, Hela; Soyah, Najla; Labalme, Audrey; Guilbert, Helene; Sanlaville, Damien; Saad, Ali; Mougou-Zerelli, Soumaya: Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation

Case Report

098
Fusco, Carmela; Nittis, Pasquelena De; Alfaiz, Ali Abdullah; Pellico, Maria Teresa; Augello, Bartolomeo; Malerba, Natascia; Zelante, Leopoldo; Reymond, Alexandre; Merla, Giuseppe: A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case
103
Richieri-Costa, Antonio; Vendramini-Pittoli, Siulan; Kokitsu-Nakata, Nancy Mizue; Zechi-Ceide, Roseli Maria; Alvarez, Camila Wenceslau; Ribeiro-Bicudo, Lucilene Arilho: Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

Book Review