Most Recent Additions*
A Case Report of Shwachman-Diamond Syndrome and Literature Review
Xinfeng Gao and Jizhong Wang
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
Tethered Spinal Cord and Urinary Tract Complications in Trisomy 18
Michael A. Phillipi, Ladawna Gievers, Jesse L. Winer, Casey Seideman, and Amanda J.H. Kim
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
Ponto-bulbar Palsy, Sensorineural Hearing Loss, Tongue Fasciculation: Molecular Study & Review of Indian Cases
Ankur Singh, Sukanaya Ghosh, Durgadatta Pattanayak, Abhishek Abhinay, and Rajniti Prasad
Association between IL-17A and IL-17RC Gene Polymorphisms and Childhood Asthma in South Indian Children
Balasubramanian Jeyaraman, Balasubramanian Marimuthu, Balasankar Soundaiyan, Ramajayam Govindan, and Maheshkumar Poomarimuthu
Short-Term Effects of Extremely Low-Frequency Electromagnetic Fields on Neurogenesis and Wnt Signaling in Amniotic Fluid Cells
Coşar Uzun, Ümit Karakaş, Mustafa Ertan Ay, Özlem İzci Ay, Didem Derici Yıldırım, Nurten Erdal, and Mehmet Emin Erdal
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
Clinical Complications and Management Strategies for Wolcott-Rallison Syndrome
Pavan K. Madasu, Durga Ashok Burande, Nivedhitha Ulaganathan, and Thyageshwar Chandran
A Case of Extra-Arterial Vascular Anomalies in a Patient with Williams Syndrome
Meredith Barrientez, Katherine Forrester, and Margaret Rozier-Chen
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
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
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
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
Phenotyping and Provisional Diagnosis of Mucopolysaccharidoses Based on Machine Learning
Srilatha Kadali, Shaik Mohammad Naushad, and Vijaya Lakshmi Bodiga
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
Systematic Exploration of TRPV6 Variants in Pancreatitis: Unraveling Genetic Associations and Pathophysiological Insights through Comprehensive Systematic Review and In-Silico Analysis
Omar Alomari, Rumeysa Yegin, Muhammed Edib Mokresh, Ghazaleh Kokabi Ghahremanpour, Nurullah Komurcu, Elif Nur Ari, Magda Wojtara, Ali Karaman, and Abdulqadir J. Nashwan
Novel SUCLG1 Variants in a Patient with Fatal Neonatal Onset Succinyl-Coa Ligase Deficiency
Devlynne S. Ondusko, Lauren Culbertson, Cary O. Harding, Cori Feist, Johan L.K. Van Hove, Marisa W. Friederich, Sacha Ferdinandusse, Roxanne A. Van Hove, Jonathan N. Pruneda, Brian Scottoline, and Kimberly A. Kripps
*Updated as of 03/30/26.