A case illustrating Proteus and Klippel-Trenaunay syndrome overlap

Use of ustekinumab for severe refractory atopic dermatitis in a young teenager.

Clinical and experimental dermatology·2016

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Journal of inherited metabolic disease·2014

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).

Muscle & nerve. Supplement·2013

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

Muscle & nerve. Supplement·2013

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2007