Ida Bianco
Ida Bianco Silverstroni (1917 - 2006) was an Italian physician and haematologist. Silvestroni-Bianco anaemia (1948); heterozygotous thalassaemia
Category Eponym
Petrus Waardenburg
Petrus Johannes Waardenburg (1886 - 1979) was a Dutch ophthalmologist and geneticist. Waardenburg syndrome (1951); Waardenburg-Jonkers disease (1961); and Shah-Waardenburg syndrome (1981)
Helga V. Toriello
Helga V Toriello (1952 - ) PhD, FACMG. American Medical Geneticist and dysmorphologist. Toriello-Carey syndrome in 1988
Caspar Bartholin Secundus
Caspar Bartholin the Younger (1655 - 1738) was a Danish physician and anatomist. Bartholin Glands (1677)
Roberta A. Pagon
Roberta A. Pagon (1945 - ) pediatrician and geneticist. Pagon syndrome - Anemia sideroblastic and spinocerebellar ataxia (1985)
Renata Laxova
Renata Laxova (1931 - ) Czech-American medical geneticist. Neu-Laxova syndrome (NLS) (1971)
Fuller Albright
Fuller Albright (1900 - 1969) was an American endocrinologist.
Florence C. Dudley
Florence Chisholm Dudley (1902 - 1962) was an American assistant in medical genetics. Allan-Herndon-Dudley syndrome (1943)
James Mackenzie
Sir James Mackenzie (1853-1925) was a Scottish cardiologist and General Practitioner. Mackenzie was a pioneer in the study of cardiac arrhythmias known as the father of British cardiology
Eeva Therman
Eeva Therman-Patau (1916 - 2004) was a Finnish-American cytogeneticist. Mrs. X Chromosome
Oskar Kobyliński
Carl Oscar Alexander von Kobyliński (1856 - 1926) was a Polish-Baltic German general practitioner. First description of Noonan syndrome (1893)
Jacqueline Hecht
Jacqueline Tauber Hecht is an American medical geneticist. Hecht-Scott syndrome - congenital limb malformation syndrome - (1981)