DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 01 · Volume 12 · March 2023 · Sample Issue DOI: 10.1055/s-013-56372

Contributing Reviewers

i
Contributing Reviewers in 2022

Erratum

e1
Chow, Chit Kwong; Luk, Ho Ming; Wong, Suet Na: Erratum: KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate

Review Article

001
Kannan, Balachander; Navamani, Hepzibah Kirubamani; Jayaseelan, Vijayashree Priyadharsini; Arumugam, Paramasivam: A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis

Original Article

016
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
023
Elabd, Heba Salah Abdelkhalek; Bastaki, Fatma; Khalifa, Mohamed: Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population
032
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
042
Goyal, Manisha; Gupta, Ashok; Bhandari, Anu; Faruq, Mohammed: Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India
048
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
053
Panigrahi, Inusha; Bhatt, Yogita; Malik, Shivani; Kaur, Parminder; Kaur, Anupriya: Clinical Profile of Indian Children with Down Syndrome

Case-Based Review

058
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

064
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
069
Binamer, Yousef; Chisti, Muzamil A.: Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia
073
Chidambaram, Aakash Chandran; Talwar, Milan; Kasinathan, Ananthanarayanan; Gulati, Reena; Selvan, Tamil: Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too
076
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
081
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
086
Kumari, Divya; Chaudhary, Deepti; Panigrahi, Inusha; Rohit, Manoj K.: Genetic Defects in Children with Cardiac Anomalies/Malformations: Noonan and CFC Syndromes
090
Chow, Chit Kwong; Luk, Ho Ming; Wong, Suet Na: KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate