Journal of Pediatric Genetics (ISSN: 2146-4596) now in
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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
LAST ISSUE
Contributing Reviewers in 2022
Erratum
Chow, Chit Kwong;Luk, Ho Ming;Wong, Suet Na:
Erratum: KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate
Review Article
Kannan, Balachander;Navamani, Hepzibah Kirubamani;Jayaseelan, Vijayashree Priyadharsini;Arumugam, Paramasivam:
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis
Original Article
Salah, Nouran Y.;Ali, Heba G. A.;Bassiouny, Noha;Salem, Lamya;Taha, Sara I.;Youssef, Mariam K.;Annaka, Layla;Barakat, Noha M.:
BCL11A Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity
Elabd, Heba Salah Abdelkhalek;Bastaki, Fatma;Khalifa, Mohamed:
Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population
Gowda, Vykuntaraju K.;Battina, Manojna;Vegda, Hemadri;Srinivasan, Varunvenkat M.;Chikara, Surendra K.;Mishra, Adrija;Shivappa, Sanjay K.;Benakappa, Naveen:
Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India
Goyal, Manisha;Gupta, Ashok;Bhandari, Anu;Faruq, Mohammed:
Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India
Ramos-Mejía, Rosario;Monterroza-Quintana, Francisco;Primomo, Claudio;Goyeneche, Rodolfo;Fano, Virginia:
Acetabular Protrusion in a Cohort of Patients with Osteogenesis Imperfecta Evaluated in a Pediatric Hospital
Panigrahi, Inusha;Bhatt, Yogita;Malik, Shivani;Kaur, Parminder;Kaur, Anupriya:
Clinical Profile of Indian Children with Down Syndrome
Case-Based Review
Patil, Siddaramappa J.;Pande, Shruti;Matalia, Jyoti;Bhat, Venkatraman;Kekatpure, Minal;Girisha, Katta Mohan:
Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review
Case Report
Sánchez-Herrero, Ángeles;Carmona-Talavera, Diego;García-Verdevio, M Elia;Hernando-Espinilla, Amaya;Estañ-Capell, Nuria:
Mosaic Trisomy 5: Prenatal Genetic Diagnosis and Outcomes of a New Case
Binamer, Yousef;Chisti, Muzamil A.:
Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia
Chidambaram, Aakash Chandran;Talwar, Milan;Kasinathan, Ananthanarayanan;Gulati, Reena;Selvan, Tamil:
Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too
Nagabushana, Divya;Chatterjee, Aparajita;Kenchaiah, Raghavendra;Asranna, Ajay;Arunachal, Gautham;Mundlamuri, Ravindranadh Chowdary:
Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms
de Carvalho, Acácia Fernandes Lacerda;Pitanga, Paula Monique Leite;Alves, Esmeralda Santos;Miguel, Diego Santana Chaves Geraldo;Santo, Laila Damasceno Espirito;de Araújo, Ana Eliete Fernandes;Ornellas, Ana Carolina Pereira;Toralles, Maria Betânia Pereira:
Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years
Kumari, Divya;Chaudhary, Deepti;Panigrahi, Inusha;Rohit, Manoj K.:
Genetic Defects in Children with Cardiac Anomalies/Malformations: Noonan and CFC Syndromes
Chow, Chit Kwong;Luk, Ho Ming;Wong, Suet Na:
KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate