Navamani, Hepzibah Kirubamani;

Jayaseelan, Vijayashree Priyadharsini;

Arumugam, Paramasivam:


A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis

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

Bastaki, Fatma;

Khalifa, Mohamed:


Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population

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

Gupta, Ashok;

Bhandari, Anu;

Faruq, Mohammed:


Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India

Monterroza-Quintana, Francisco;

Primomo, Claudio;

Goyeneche, Rodolfo;

Fano, Virginia:


Acetabular Protrusion in a Cohort of Patients with Osteogenesis Imperfecta Evaluated in a Pediatric Hospital

Bhatt, Yogita;

Malik, Shivani;

Kaur, Parminder;

Kaur, Anupriya:


Clinical Profile of Indian Children with Down Syndrome

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

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

Chisti, Muzamil A.:


Kindler’s Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia

Talwar, Milan;

Kasinathan, Ananthanarayanan;

Gulati, Reena;

Selvan, Tamil:


Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too

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

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

Chaudhary, Deepti;

Panigrahi, Inusha;

Rohit, Manoj K.:


Genetic Defects in Children with Cardiac Anomalies/Malformations: Noonan and CFC Syndromes

Luk, Ho Ming;

Wong, Suet Na:



KCNQ2

Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate