Journal of Pediatric Genetics

Issue 03 · September 2018

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Issue
Erratum
e1
Camacho-Cruz, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie: Erratum: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family

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Original Article
097
Radha Rama Devi, Akella; Lingappa, Lokesh; Naushad, Shaik Mohammad: Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy

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Supplementary Material

Supplementary Material
103
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

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Rapid Communication
114
Efthymiou, Stephanie; Salpietro, Vincenzo; Bettencourt, Conceicao; Houlden, Henry: Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

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Case Report
117
Barış, Zeren; Özçay, Figen; Olcay, Lale; Ceylaner, Serdar; Sezer, Taner: A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

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122
Camacho-Cruz, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family

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125
Kumar, Vivek; Roy, Shuvendu; Kumar, Gaurav: An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome

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130
Shukla, Anju; Kaur, Parneet; Girisha, Katta M.: Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1

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Supplementary Material

Supplementary Tables
134
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)

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Supplementary Material

Supplementary Figures
138
Kylat, Ranjit I.: 22q11.2 Microduplication: An Enigmatic Genetic Disorder

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