Most Popular Papers*
Succinyl-CoA:3-ketoacid CoA Transferase (SCOT) Deficiency: Case Series of Eight Patients with Novel OXCT1 Mutations from a Consanguineous Population in India
Radharamadevi Akella
Infantile Hypertriglyceridemia Secondary to GPD1 Defects: An Underdiagnosed Differential of Infantile Hepatomegaly and Hepatic Steatosis
Snigdha Verma, Vikrant Sood, Bikrant Bihari Lal, Rajeev Khanna, Chhagan Bihari, and Seema Alam
A Study of Diagnostic Experience and Impacts of Rare Disease Diagnosis In Children and Their Families: Insights from India
Nidhi Vijay, Ashok Gupta, Priyanshu Mathur, and Megha Sharma
46,XX Disorders of Sex Development: A Case with p.Arg92Trp Variant in NR5A1
Mehmet Ali OKTAY, Agah AKIN, Esra DÖĞER, Gülsüm KAYHAN, Gizem Eşme KOCAMAN, Mahmut Orhun ÇAMURDAN, and Aysun BİDECİ
Effects of Intensive Physical Therapy and Two-Year Follow-Up Results in a Child with Kleefstra Syndrome: A Case Report
Doğan Porsnok and Akmer Mutlu
Alopecia in Hereditary Epidermolysis Bullosa: A Series of 52 Cases
Kmar Turki, Khadija Sellami, Rim Chaabouni, Fatma Hammami, Emna Mnif, Emna Bahloul, and Hamida Turki
Novel Insights into WDFY3 Pathogenicity: A Case Report of Microcephaly and Epilepsy
Pietra Spinardi, Gabriel Bordignon, Gustavo Moura da Mata Machado Ferreira Pinto, Monica Alexandra de Conto, and Daniel Almeida do Valle
Unraveling the Etiology of Childhood Hypotonia Using Exome Sequencing
Arya Shambhavi, Amita Moirangthem, Rajesh Kumar Maurya, Varunvenkat M. Srinivasan, Haseena Sait, Somya Srivastava, Renu Suthar, and Shubha R. Phadke
Sleep Disordered Breathing in Children with Achondroplasia: 17 years’ Experience from a Multidisciplinary Team
Maria Jose Guerdile, Virginia Fan, Mariana Del Pino, and Vivian Leske
Unresponsiveness to Vitamin Therapy in Twins with Early Onset Biotin-Thiamine Responsive Encephalopathy Type 2 Caused by Biallelic Truncating Variant in SLC19A3 Gene
Siddaramappa J. Patil, Minal Kekatpure, Venkatraman Bhat, Harini Sreedaran, and Rajiv Aggarwal
* Based on the average number of full-text downloads per day since the paper was posted.