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

    Supplement 1 (PDF) Supplement 2 (PDF) Supplement 3 (PDF) Supplement 4 (PDF) Supplement 5 (PDF)
  • 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

  • 092
    Singh, Keerti; Kumar, Alok:

    Anterior Abdominal Wall Defects, Diaphragmatic Hernia, and Other Major Congenital Malformations of the Musculoskeletal System in Barbados, 1993–2012

    • 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

    Supplementary Tables (PDF)
  • 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

  • 107
    Allawh, Tanya C.; Brown, Barry Scott:

    The Clinical Manifestations and Genetic Implications of Baraitser–Winter Syndrome Type 2

  • 111
    Kylat, Ranjit I.:

    What Is the Teratogenic Risk of Mycophenolate?

  • 115
    Swaminathan, Sethuraman; Gorla, Sudheer R.; Barbouth, Deborah S.:

    Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

  • 118
    Abdalla, Ebtesam M.; El-Beheiry, Ahmed A.:

    Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant

  • 122
    Kylat, Ranjit I.:

    Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature

  • 126
    Shah, Ira; Chilkar, Sujeet:

    Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child

    • Book Review

  • 128
    Muriello, Michael; Bodurtha, Joann N.:

    Essential Mednotes—Comprehensive Medical Reference & Review for USMLE II and MCCQE I