Journal of Pediatric Genetics

Issue 01 · March 2018

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Reviewers' List
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Contributing Reviewers in 2017

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Review Article
001
Gettelfinger, John D.; Dahl, John P.: Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics

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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

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Supplementary Material

Supplementary Material
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

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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

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Supplementary Table
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)

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029
Praticò, Andrea Domenico; Falsaperla, Raffaele; Rizzo, Renata; Ruggieri, Martino; Verrotti, Alberto; Pavone, Piero: A New Patient with Potocki–Lupski Syndrome: A Literature Review

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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

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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

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Letter to the Editor
043
Briegel, Wolfgang: Disability-Related Problems of Children and Adolescents with Moebius Sequence and their Mothers' Coping

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045
Joob, Beuy; Wiwanitkit, Viroj: Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection

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046
Fontana, Paolo: Reply to the Letter: “Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection”

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