DOI: 10.1055/s-00029027

Journal of Pediatric Genetics


Publication Date: 13 October 2018

Publication Date: 21 September 2018

Case Report

Canter, Jennifer; Rao, Vinod B.; Palusci, Vincent J.; Kronn, David; Manaster, Michal; Altman, Robin: Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series

Publication Date: 15 September 2018

Case Report

Gogou, Maria; Damianidou, Labrini; Papageorgiou, Theodotis; Tragiannidis, Athanasios; Haidopoulou, Katerina; Giannopoulos, Andreas; Hatzipantelis, Emmanuel: Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings

Publication Date: 31 August 2018

Case Report

Lazzara, Alexandra; Daymont, Carrie; Ladda, Roger; Lull, Jordan; Ficicioglu, Can; Cohen, Jennifer L.; Aprile, Justen: Failure to Thrive: An Expanded Differential Diagnosis

Publication Date: 25 August 2018

Case Report

Liaugaudiene, Olga; Stoniene, Dalia; Kucinskiene, Ruta; Buffat, Christophe; Asmoniene, Virginija: Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea

Publication Date: 22 August 2018

Case Report

Kendir, Ozlem Tolu; Yilmaz, Hayri Levent; Bozdogan, Sevcan; Bisgin, Atıl; Celik, Tugçe; Surmelioglu, Ozgur; Doran, Figen: A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping

Publication Date: 18 August 2018

Review Article

Heathfield, Laura Jane; Martin, Lorna Jean; Ramesar, Raj: A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

Publication Date: 30 June 2018

Case Report

Publication Date: 16 June 2018

Case Report

Upadia, Jariya; Gomes, Alicia; Weiser, Peter; Descartes, Maria: A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome

Publication Date: 14 June 2018

Case Report

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

Publication Date: 02 June 2018

Case Report

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

Publication Date: 30 May 2018

Case Report

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

Publication Date: 16 May 2018

Case Report

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

Publication Date: 10 May 2017