Rein P. Stulp

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

Robert M.W. Hofstra, Rudy M. Landsvater, Isabella Ceccherini et al. · Nature · 1994 · 1.2K citations

Endocrine Oncology, Oncogenic Agent, Genetics +6

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata et al. · Nature Genetics · 1996 · 298 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion

Marcel F. Jonkman, Hans Scheffer, Rein P. Stulp et al. · Cell · 1997 · 265 citations · Full text

Cell Division, Genetics, Genetic Engineering +5

RET andGDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

Robert M.W. Hofstra, Ying Wu, Rein P. Stulp et al. · Human Mutation · 2000 · 102 citations

Gel Systems, Engineering, Genetics +19

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.

Robert M.W. Hofstra, Tineke Stelwagen, Rein P. Stulp et al. · The Journal of Clinical Endocrinology & Metabolism · 1996 · 76 citations

Somatic Variant, Genetic Disorder, Medicine +10