Fetal hemivertebra: a rare form of 18q deletion prenatal presentationMafalda Laranjo, Márcia Marinho, Conceição Brito, Cristina Godinho
10 February 2023
Two siblings with a rare type of maturity-onset diabetes of the young (MODY)Fatima Riyadh Alhakim, Haya AlKhayyat
10 February 2023
HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemiaShobitha Vollmer, Per Katzman, Magnus Londahl
9 February 2023
Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhoodYaja Jebaying, Karunesh Kumar, Smita Malhotra, Anupam Sibal
7 February 2023
Successful outcome in a compound heterozygote haemoglobin E/beta-thalassaemia in pregnancyKalika Dubey, Charu Sharma, Suma Shet, Shashank Shekhar
7 February 2023
KRAS G12D mutation in Brunner gland adenomaMahatma Ortega, Jessica Sparks, Jack Lichy, Victor E Nava
27 January 2023
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP geneSagarika Snehi, Anupriya Kaur, Chakshu Chaudhry, Sushmita Kaushik
18 January 2023
NKX2-5 genetic mutation in a young woman with an atrial septal defect presenting with complete heart block: ICD or bradycardia pacemaker?Ahmed El-Medany, Shahid Aziz, Edward Duncan
6 January 2023
Case of bilateral hip joint Charcot arthropathy in a paediatric patientAtmananda Hegde, Shruthi H Kamath, Prajwal Prabhudev Mane, Chethan B Shetty
2 January 2023
Vascular malformation rupture in a patient affected by Costello syndromeFrancesca Barbieri, Ignacio Fernando Hall, Leonardo Elia, Efrem Civilini
16 December 2022
