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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
LAST ISSUE
Çaksen, Hüseyin:
Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder
Review Article
de Azevedo, Brenda Lamônica Rodrigues;Roni, Gabriel Marim;Torrelio, Rosalie Matuk Fuentes;da Gama-de-Souza, Letícia Nogueira:
Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review
Çaksen, Hüseyin:
Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective
Diniz, Bruna Lixinski;Deconte, Desirée;Gadelha, Kerolainy Alves;Glaeser, Andressa Barreto;Guaraná, Bruna Baierle;de Moura, Andreza Ávila;Rosa, Rafael Fabiano Machado;Zen, Paulo Ricardo Gazzola:
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis
Original Article
Bhalla, Anil Kumar;Kaur, Harvinder;Kaur, Rupinder;Panigrahi, Inusha;Walia, Brij Nandan Singh:
Growth Pattern and Use of Inter-pupillary Distance in the Detection of Ocular Hypertelorism and Hypotelorism in Indian Down Syndrome Children
Lakkakula, Bhaskar V. K. S.;Pattnaik, Smaranika:
The HBG2 rs7482144 (C > T) Polymorphism is Linked to HbF Levels but not to the Severity of Sickle Cell Anemia
Lin, Grace;Wei, Heming;Lai, Angeline H. M.;Tan, Ee-Shien;Lim, Jiin Ying;Cham, Breana;Ling, Simon;Jamuar, Saumya S.;Tan, Ene-Choo:
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1
Case Report
Goyal, Manisha;Faruq, Mohammed;Gupta, Ashok;Shrivastava, Divya;Shamim, Uzma:
6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation
Carvalho, Daniel R.;Speck-Martins, Carlos E.;Martins, Bernardo J. A. F.;Izumi, Ana Paula;La Rocque-Ferreira, Alessandra:
Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant
Somarajan, Bindu I.;Gupta, Shikha;Mahalingam, Karthikeyan;Azmira, Kishan;Gupta, Viney:
Digenic Inheritance in Juvenile Open-Angle Glaucoma
Fonseca, Jacinta;Melo, C.;Ferreira, C.;Sampaio, M.;Sousa, R.;Leão, M.:
RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report
Nieto-Barcelo, Juan Jose;Gonzalez Montes, Noelia;Gonzalo Alonso, Isabel;Martinez, Francisco;Aparisi, Maria Jose;Martinez-Matilla, Marina;Marco Hernandez, Ana Victoria;Tomás Vila, Miguel:
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
Ranganath, Prajnya;Patil, Mallikarjun:
Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders
Case-Based Review
Petrović, Davor;Čulić, Vida;Swinderek-Alsayed, Zofia:
Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration
Menon, Dipika;Dentel, John N.;Sanil, Yamuna;Lawrence, David:
Cardiac Fibroma with Asymptomatic Ventricular Arrhythmia in an Adolescent with Gorlin's Syndrome
Singanamalla, Bhanudeep;Paria, Pradip;Suthar, Renu;Saini, Arushi G.;Attri, Savita V.:
The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?
Lund, Kelli C.;Scottoline, Brian;Jordan, Brian K.:
Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity