Concepedia

Edna E. Mancilla

EE

23

Publications

1.8K

Citations

20

H-Index

1990

Active since

Affiliations

University of Pennsylvania(Current)

Children's Hospital of Philadelphia

National Institutes of Health

Eunice Kennedy Shriver National Institute of Child Health and Human Development

University of Chile

Edna E. Mancilla is an author at University of Pennsylvania specializing in medicine, osteoporosis, and orthopaedics.

Top concepts

Publications per year

1990–2022

23

Publications

23

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

Edith C. H. Friesema, Annette Grueters, Heike Biebermann et al. · The Lancet · 2004 · 697 citations · Full text

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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 107 citations

, , +10

Sporadic Hypoparathyroidism Caused by<i>de Novo</i>Gain- of-Function Mutations of the Ca<sup>2+</sup>-Sensing Receptor<sup>1</sup>

Francesco De Luca, Kausik K. Ray, Edna E. Mancilla et al. · The Journal of Clinical Endocrinology & Metabolism · 1997 · 94 citations · Full text

Retinoic Acid Is a Potent Regulator of Growth Plate Chondrogenesis

Francesco De Luca, Jennifer A. Uyeda, Verónica Mericq et al. · Endocrinology · 2000 · 87 citations · Full text

, , +17

Effects of Fibroblast Growth Factor-2 on Longitudinal Bone Growth*

Edna E. Mancilla, Francesco De Luca, Jennifer A. Uyeda et al. · Endocrinology · 1998 · 80 citations · Full text

, , +16

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