Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome
10.1136/bcr-2022-253035
March 21, 2023
Genetics
Novel mutation causing Zellweger syndrome
10.1136/bcr-2022-252014
March 17, 2023
Type 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young woman
10.1136/bcr-2022-253878
March 17, 2023
Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis)
10.1136/bcr-2022-254366
March 8, 2023
Two siblings with a rare type of maturity-onset diabetes of the young (MODY)
10.1136/bcr-2022-249362
February 10, 2023
Fetal hemivertebra: a rare form of 18q deletion prenatal presentation
10.1136/bcr-2022-251914
February 10, 2023
HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
10.1136/bcr-2022-254274
February 9, 2023
Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhood
10.1136/bcr-2021-245852
February 7, 2023
Successful outcome in a compound heterozygote haemoglobin E/beta-thalassaemia in pregnancy
10.1136/bcr-2022-252829
February 7, 2023
KRAS G12D mutation in Brunner gland adenoma
10.1136/bcr-2022-252160
January 27, 2023