Roifman syndrome: a description of further immunological and radiological featuresDanielle Clifford, Fiachra Moloney, Timothy Ronan Leahy, Deirdre M Murray
21 April 2022
Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literatureJulie Loft Nagel, Aia Elise Jønch, Nina T T N Nguyen, Anette Bygum
12 April 2022
Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature reviewEkkarit Panichsillaphakit, Tanisa Kwanbunbumpen, Sirinuch Chomtho, Chonnikant Visuthranukul
7 April 2022
Homozygous V377I mutation causing mevalonate kinaseTeresa Brito, Denise Banganho, Cristina Pedrosa, João Farela Neves
6 April 2022
Transient infantile hypertriglyceridaemia due to homozygous mutation in GPD1 presenting in childhood with hepatic adenomaKarunesh Kumar, Smita Malhotra, Anupam Sibal
1 April 2022
Neonatal rhabdomyoma with cardiac dysfunction: favourable response to sirolimusMenghao Duan, Sreekanthan Sundararaghavan, Ai Ling Koh, Shui Yen Soh
24 March 2022
High energy expenditure in a patient with feeding problems and Noonan syndrome spectrum disorderDagmar Tiemens, Annemiek van Wegberg, Debbie van Druten, Jos Draaisma
22 March 2022
Microcystic stromal tumour of testisMarije Hoogland, Ivar Bleumer, Albert Suurmeijer
18 March 2022
Pseudo-hypertriglyceridaemia in glycerol kinase deficiency misdiagnosed and treated as true hypertriglyceridaemiaVivek Pant, Devish Pyakurel, Keyoor Gautam, Santosh Pradhan
15 March 2022
Mutation of the MYL3 gene in a patient with mid-ventricular obstructive hypertrophic cardiomyopathyAkash Mavilakandy, Hisham Ahamed
14 March 2022
