DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 01 · Volume 07 · März 2018 DOI: 10.1055/s-008-38507

Reviewers' List

  • i

    Contributing Reviewers in 2017

    • Review Article

  • 001
    Gettelfinger, John D.; Dahl, John P.:

    Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics

    • Original Article

  • 009
    Shambhavi, Arya; Salian, Smrithi; Shah, Hitesh; Nair, Mohandas; Sharan, Krishna; Jin, Dong-Kyu; Cho, Sung Yoon; Mathew, Mary; Shukla, Anju; Girisha, Katta M.:

    Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor

    Supplementary Material (PDF)
  • 014
    Kettwig, Matthias; Ohlenbusch, Andreas; Jung, Klaus; Steinfeld, Robert; Gärtner, Jutta:

    Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia

  • 019
    Singh, Mable Misha; Kumar, Ravindra; Tewari, Satyendra; Agarwal, Sarita:

    No Association of Genetic Markers with Carotid Intimal Medial Thickness in β-Thalassemia Major Patients

    Supplementary Table (PDF)

    • Case Report

  • 023
    Peterson, Jess F.; Basel, Donald G.; Bick, David P.; Chirempes, Brett; Lorier, Rachel B.; Zemlicka, Nykula; Grignon, John W.; Weik, LuAnn; Kappes, Ulrike:

    A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33)

  • 029
    Praticò, Andrea Domenico; Falsaperla, Raffaele; Rizzo, Renata; Ruggieri, Martino; Verrotti, Alberto; Pavone, Piero:

    A New Patient with Potocki–Lupski Syndrome: A Literature Review

  • 035
    Peterson, Jess F.; Geddes, Gabrielle C.; Basel, Donald G.; Schippman, Dana; Grignon, John W.; vanTuinen, Peter; Kappes, Ulrike P.:

    Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier

  • 040
    de Souza, Paulo Victor Sgobbi; Bortholin, Thiago; Burlin, Stênio; Naylor, Fernando George Monteiro; Pinto, Wladimir Bocca Vieira de Rezende; Oliveira, Acary Souza Bulle:

    NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

    • Letter to the Editor

  • 043
    Briegel, Wolfgang:

    Disability-Related Problems of Children and Adolescents with Moebius Sequence and their Mothers' Coping

  • 045
    Joob, Beuy; Wiwanitkit, Viroj:

    Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection

  • 046
    Fontana, Paolo:

    Reply to the Letter: “Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection”