Most Popular Papers *
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
Fanconi-Bickel Syndrome with Variable Phenotypes: A Case Series Highlighting a Successful Pregnancy Outcome from a Tertiary Care Center in North India
Pragya Kafley, Varunvenkat M. Srinivasan, Chaitra Ravi, Sangeeta Das, Pooja Motwani, and Kausik Mandal
Lesch-Nyhan Disease a Treatable Mimicker of Dyskinetic Cerebral Palsy in Boys: Insights from an Indian Series of Six Cases with Report of Four Novel Variants
Vykuntaraju K. Gowda, Spoorthy Nelaji Karunakar, Varunvenkat M. Srinivasan, and Viveka-Santhosh Reddy
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
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
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
Diagnosis and Initial Tratment of Gorham-stout’s Disease
Jesús González Cayón, Maria del Carmen San Basilio Berenguer, Julio César Moreno Alfonso, Santiago De la Puente Pérez, Paloma Triana Junco, and Juan Carlos López Gutiérrez
Genotype First Approach as a Diagnostic Strategy for Precision Medicine in Moroccan Families with Nephronophthisis
Ourayna Batta, Imane J. Cherkaoui, Yasmina Rahmuni, Nada Amllal, Kenza Soulami, Abdelaziz Sefiani, and Jaber Lyahyai
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
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
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» Updated as of 01/29/26.