Journal of Pediatric Genetics (ISSN: 2146-4596) now in
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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
LAST ISSUE
Review Article
Heathfield, Laura Jane; Martin, Lorna Jean; Ramesar, Raj:
A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases
Original Article
Badawy, Magda; Mosallam, Dalia S.; Saber, Doaa; Madani, Hanan:
Use of Mannose-Binding Lectin Gene Polymorphisms and the Serum MBL Level for the Early Detection of Neonatal Sepsis
Rapid Communication
Efthymiou, Stephanie; Salpietro, Vincenzo; Bettencourt, Conceicao; Houlden, Henry:
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A
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
Camacho, Jhon; GutiUpadia, Jariya; Gomes, Alicia; Weiser, Peter; Descartes, Maria:
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome
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
Kim, Alexander Y.; Bodurtha, Joann N.:
The Wills Eye Handbook of Ocular Genetics, 1st Edition