A familial syndrome of renal, genital, and middle ear anomalies

The relation of the growing müllerian duct to the wolffian duct and its importance for the genesis of malformations

Peter Gruenwald · The Anatomical Record · 1941 · 231 citations

Medicine, Anatomy, Pathology +14

The mandibulofacial dysostosis; a new hereditary syndrome.

A. Franceschetti, Donald R. Klein · PubMed · 1949 · 230 citations

Life Sciences, Genetics, Oral Pathology +11

A Simple Chromatographic Screening Test for the Detection of Disorders of Amino Acid Metabolism

Mary L. Efron, Dean M. Young, Hugo W. Moser et al. · New England Journal of Medicine · 1964 · 187 citations

Life Sciences, Biochemistry, Biochemical Genetics +8

Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia

William H. Zinkham, Raymond E. Lenhard · The Journal of Pediatrics · 1959 · 127 citations

Medicine, Biochemistry, Hematology +13

Hydrometrocolpos as a Simply Inherited Malformation

Victor A. McKusick, Robert L. Bauer, C. Everett Koop et al. · JAMA · 1964 · 123 citations

Life Sciences, Genetics, Molecular Genetics +14