publication venue for
- Challenges and practical solutions for managing secondary genomic findings in primary care. 65:104384-104384. 2022
- Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”. 58:584-590. 2015
- 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients. 58:140-147. 2015
- Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. 54:e516-e520. 2011
- SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. 49:499-504. 2006
- DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.. 38:59-76. 1995
- Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.. 37:60-65. 1994
- 46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies.. 21:164-167. 1978