DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 04 · Volume 07 · December 2018 DOI: 10.1055/s-008-41866

Review Article

  • 143
    Heathfield, Laura Jane; Martin, Lorna Jean; Ramesar, Raj:

    A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

    • Original Article

  • 150
    Badawy, Magda; Mosallam, Dalia S.; Saber, Doaa; Madani, Hanan:

    Use of Mannose-Binding Lectin Gene Polymorphisms and the Serum MBL Level for the Early Detection of Neonatal Sepsis

    • Case Report

  • 158
    Rodríguez, Fernando; Vallejos, Carla; Bolanos-Garcia, Víctor M.; Ponce, Diana; Unanue, Nancy; Garay, Francisco; Cassorla, Fernando; Aracena, Mariana:

    Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant

    Supplementary Material (PDF)
  • 164
    Callaway, Danielle A.; Campbell, Ian M.; Stover, Samantha R.; Hernandez-Garcia, Andres; Jhangiani, Shalini N.; Punetha, Jaya; Paine, Ingrid S.; Posey, Jennifer E.; Muzny, Donna; Lally, Kevin P.; Lupski, James R.; Shaw, Chad A.; Fernandes, Caraciolo J.; Scott, Daryl A.:

    Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

    Supplementary Material (PDF)
  • 174
    Upadia, Jariya; Gomes, Alicia; Weiser, Peter; Descartes, Maria:

    A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome

  • 180
    Gorla, Sudheer R.; Raja, Kishore R.; Garg, Ashish; Barbouth, Deborah S.; Rusconi, Paolo G.:

    Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

  • 185
    Yakar, Fatih; Celtikci, Emrah; Ozgural, Onur; Eroglu, Umit; Caglar, Yusuf Sukru:

    Osteogenesis Imperfecta and Extra-/Intradural Hematomas: A Case Report and Review of the Literature

    • Book Review

  • 191
    Kim, Alexander Y.; Bodurtha, Joann N.:

    The Wills Eye Handbook of Ocular Genetics, 1st Edition