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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
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Reviewers' List
Contributing Reviewers in 2018
Original Article
Arican, Pinar; Olgac Dundar, Nihal; Ozyilmaz, Berk; Cavusoglu, Dilek; Gencpinar, Pinar; Erdogan, Kadri Murat; Saka Guvenc, Merve:
Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability
Alkhateeb, Asem; Alazaizeh, Wafa:
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing
Case Report
Durrani, Sana; Chen, Bee Chin; Yakob, Yusnita; Hian, Lua Seok; Afroze, Bushra:
Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation
Liaugaudiene, Olga; Stoniene, Dalia; Kucinskiene, Ruta; Buffat, Christophe; Asmoniene, Virginija:
Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea
Lazzara, Alexandra; Daymont, Carrie; Ladda, Roger; Lull, Jordan; Ficicioglu, Can; Cohen, Jennifer L.; Aprile, Justen:
Failure to Thrive: An Expanded Differential Diagnosis
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
Rapid Communication
Boëchat-Fernandes, Alejandro; Réa, Rosângela Roginski; Romanzini, Nicole Balster; Gomes, Marilia Brito; Furtado-Alle, Lupe; Souza, Ricardo L. R.:
IL18 Gene Polymorphism Influences Age of Onset of DM1 in African Ancestry Brazilians