DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 08 December 2017

Publication Date: 06 December 2017

Publication Date: 23 November 2017

Publication Date: 25 October 2017

Original Article

Kettwig, Matthias; Ohlenbusch, Andreas; Jung, Klaus; Steinfeld, Robert; Gärtner, Jutta: Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders—No Impact for Childhood Dementia

Publication Date: 24 August 2017

Case Report

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

Publication Date: 14 August 2017

Case Report

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

Publication Date: 27 July 2017

Case Report

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

Publication Date: 26 July 2017

Case Report

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)

Publication Date: 13 July 2017

Original Article

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

Publication Date: 10 May 2017