Madeleine D. Harbison

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse

Michael P. Wajnrajch, Joseph M. Gertner, Madeleine D. Harbison et al. · Nature Genetics · 1996 · 319 citations

Knockout Mouse, Growth Hormone, Endocrine Mechanism +8

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud et al. · Journal of Medical Genetics · 2015 · 210 citations · Full text

A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

Robert C. Wilson, Zygmunt S. Krozowski, K. Li et al. · The Journal of Clinical Endocrinology & Metabolism · 1995 · 198 citations

R337c Mutation, Mendelian Disorder, T Transition +13

Examination of Genotype and Phenotype Relationships in 14 Patients with Apparent Mineralocorticoid Excess¹

Swati Dave-Sharma, Robert Wilson, Madeleine D. Harbison et al. · The Journal of Clinical Endocrinology & Metabolism · 1998 · 177 citations · Full text

Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.

Robert C. Wilson, Madeleine D. Harbison, Z. Krozowski et al. · The Journal of Clinical Endocrinology & Metabolism · 1995 · 135 citations

Apparent Mineralocorticoid Excess, Genetics, Genetic Epidemiology +16