DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 04 · Volume 07 · Dezember 2018 DOI: 10.1055/s-008-41866

Review Article


Original Article

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
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
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
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