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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
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Contributing Reviewers in 2019
Original Article
Ozyilmaz, Berk; Kirbiyik, Ozgur; Ozdemir, Taha R.; Kaya, Ozge Ozer; Kutbay, Yasar B.; Erdogan, Kadri M.; Guvenc, Merve Saka; Koc, Altug:
The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci
Barbian, Cláudia Daniela; Reuter, Cézane Priscila; Renner, Jane Dagmar Pollo; da Silva, Priscila Tatiana; Klinger, Elisa Inês; Hobkirk, James Philip; de Moura Valim, Andréia Rosane; Burgos, Miria Suzana:
Anthropometric and Metabolic Responses in FTO rs9939609 Gene Polymorphism after a Multidisciplinary Lifestyle Intervention in Overweight and Obese Adolescents
Case Report
Taslicay, Ceylan Altintas; Dervisoglu, Elmire; Ciftci, Ercument; Corapcioglu, Funda; Anik, Yonca:
PHACE Syndrome: A Rare Case
Atli, Emine Ikbal; Gurkan, Hakan; Atli, Engin; Vatansever, Ulfet; Acunas, Betul; Mail, Cisem:
De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation
Arslan, Ahmet Burak; Zamani, Ayşe Gül; Pekcan, Sevgi; Yıldırım, Mahmut Selman:
A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T
Masip, Etna; Donat, Ester; Polo, Begoña; Oltra, Silvestre; Ortega, Pedro; Ribes-Koninckx, Carmen:
Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea
Ramos Mejía, Rosario; Aza-Carmona, Miriam; del Pino, Mariana; Heath, Karen E.; Fano, Virginia; Obregon, Maria Gabriela:
Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation
Herrero-García, Ana; Marín-Reina, Purificación; Cabezuelo-Huerta, Gloria; Ferrer-Lorente, M. Belén; Rosello, Mónica; Orellana, Carmen; Martínez, Francisco; Pérez-Aytés, Antonio:
Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion
da Costa Almeida, Carla Bastos; Welter, Amanda Thum; Abech, Gabriel Dotta; Brandão, Gabriela Rangel; Flores, José Antônio Monteiro; Schüle, Birgitt; Francke, Uta; Fiegenbaum, Marilu; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado:
Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant
Jain, Angita; Selvam, Pavalan; Atwal, Herjot; Atwal, Paldeep S.:
A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome
Pournami, Femitha; Upadhyay, Swati; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen:
Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19
Leone, Paola E.; Pérez-Villa, Andy; Yumiceba, Verónica; Hernández, María Ángeles; García-Cárdenas, Jennyfer M.; Armendáriz-Castillo, Isaac; Guerrero, Santiago; Guevara-Ramírez, Patricia; López-Cortés, Andrés; Zambrano, Ana Karina; García, Juan Luis; Hernández, Jesús María; Paz-y-Miño, César:
De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation
Letter to the Editor
Sriwijitalai, Won; Wiwanitkit, Viroj:
Polymorphism in MTHFR (at SNPs 677 and 1298) in Paternal Sperm DNA and Risk of Retinoblastoma in their Children