Unusual neuroimaging features in a patient with chromosome 11q14.1–11q23.2 deletionClarice Ho, Hollie A Lai, John Ross Crawford
11 November 2022
Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration familyLaura Budurlean, Maria Baker, James Broach
11 November 2022
Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delayDaniel O'Reilly, Sharon Dempsey, Michael Joseph O'Grady, Taha Ibrahim Yousif
8 November 2022
Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literatureAsra Akbar, Sharjeel Ahmad, Sean Creeden, Huan Huynh
3 November 2022
Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)Shreya Das, Charu Sharma, Meenakshi Gothwal, Nayan Tada
19 September 2022
Systemic sclerosis in a patient with muscle dystrophySara Moutinho-Pereira, Eurico Morais-de-Sá, Helena Greenfield, P Ricardo Pereira
13 September 2022
Isolated corneal perineural amyloidosis: a unique presentation of lattice corneal dystrophyAafreen Bari, Ananya Parampalli Ravindra, Rajesh Sinha
25 August 2022
Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelinesSophie Howarth, Richard Quinton
17 August 2022
Recurrent episodes of vomiting and diarrhoea in a male child: a rare presentation of X-linked adrenoleukodystrophyPranav Gupta, Stephanie R Keller, Briana Patterson
10 August 2022
Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosomeNattaporn Tassanakijpanich, Rachel Wright, Flora Tassone, Suma P Shankar, Randi Hagerman
26 July 2022
