Journal of Pediatric Genetics (ISSN: 2146-4596) now in

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Official Journal of the World Pediatric Society, Turkiye


Volume 7, Number 3, Year 2018

Original Article
Radha Rama Devi, Akella; Lingappa, Lokesh; Naushad, Shaik Mohammad:
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy

Bisht, Shilpa; Chawla, Bhavna; Dada, Rima:
Oxidative Stress and Polymorphism in MTHFR SNPs (677 and 1298) in Paternal Sperm DNA is Associated with an Increased Risk of Retinoblastoma in Their Children: A Case–Control Study

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
Barış, Zeren; Özçay, Figen; Olcay, Lale; Ceylaner, Serdar; Sezer, Taner:
A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

Camacho, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie:
Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family

Kumar, Vivek; Roy, Shuvendu; Kumar, Gaurav:
An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome

Shukla, Anju; Kaur, Parneet; Girisha, Katta M.:
of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1

Costain, Gregory; Inbar-Feigenberg, Michal; Saleh, Maha; Yaniv-Salem, Shimrit; Ryan, Greg; Morgen, Eric; Goh, Elaine S.; Nishimura, Gen; Chitayat, David:
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)

Kylat, Ranjit I.:
22q11.2 Microduplication: An Enigmatic Genetic Disorder