Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
Article in Genetics in Medicine (January 2024)
The most recent citing publications are shown below. View all 11 publications that cite this research output on Dimensions.
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
Article in Frontiers in Genetics (July 2023)
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
Article in Clinical Epigenetics (March 2023)