Area of research
Genetics · Molecular Biology
Research interest
Research interests include Medicine, Aniridia, Dysgenesis, Glaucoma, Compound heterozygosity, and Nephrogenic diabetes insipidus.
Putative founder effect of Arg338* <scp> <i>AP4M1</i> </scp> ( <scp>SPG50</scp> ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
The Role of the European Society of Human Genetics in Delivering Genomic Education
A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature