Torticollis as an early manifestation of basilar invagination in a paediatric patientNehal Shata, Jumanah Ali, Nouf ALNosani, Ramsay MacNay
18 December 2024
Identification of a novel MAG gene mutation with 22q11.21 microduplication linked to hereditary spastic paraplegiaMadhura Kavishwar, Pratima Bisen, Sumeet Baheti, Poonam Wade
16 December 2024
Biotinidase deficiency—masquerade of primary immunodeficiency disease in neonateChinmay Chetan, Brajendra Singh, Saikat Patra, Girish Gupta
5 December 2024
Advanced epithelioid haemangioendothelioma in a child presenting as deep vein thrombosisTimothy Shields, Erika Pace, Sue Height, Paola Angelini
4 December 2024
Juvenile recurrent parotitisKanajam Swetha Sri Vaishnavi, Aswanth KS, Thirunavukkarasu Arun Babu
4 December 2024
Hereditary chin tremor in a childShiji Chalipat, Vishwanath Kulkarni, Priyanka Shah, Jayanth Krishna Madugula
2 December 2024
Early onset fulminant neonatal sepsis and multiple serous effusions caused by Pantoea agglomerans in an extremely preterm neonateArshdeep Kaur, Sujata Deshpande, Snehal Vilas Dhayagude, Pradeep Suryawanshi
27 November 2024
Multiple hypopigmented macules in a neonateVimesh Parmar, Rinkal Madhudiya
27 November 2024
Polymicrobial lower extremity necrotising fasciitis in a young toddler with sepsisNicholas Kenneth Nordstrom, Madison Miranda, Federico G Seifarth, Joseph David Drews
26 November 2024
Severe haemophilia A in a neonate from a resource-limited countryGlenn Patrick Montalbo Uygen, Ma Cecilia Alinea, Jochrys Estanislao
12 November 2024