DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 01 · Volume 12 · March 2023 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

    Video available
  • 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