María Caimari - Concepedia

Author

María Caimari

Hospital Universitario Son Dureta

Also Known As

Caimarí, María, M Caimari, M. Caimari, M. Caimarí, Maria Caimari, María Caimari, María Caimari, María Caimarí

Publications

512

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario Son Dureta Instituto de Salud Carlos III Hospital Universitario La Paz Centre for Biomedical Network Research on Rare Diseases Hospital Universitario Son Espases

About

María Caimari is an author at Hospital Universitario Son Dureta.

María Caimari

Publications

463

Citations

H-Index

Page 1

	Year	Citations
Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development Laura Audí, Mónica Fernández‐Cancio, Antonio Carrascosa, The Journal of Clinical Endocrinology & Metabolism	2010	145
Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS) Sara Benito‐Sanz, Eva Barroso, Damián Heine‐Suñer, The Journal of Clinical Endocrinology & Metabolism	2010	74
Primary Acid-Labile Subunit Deficiency due to Recessive<i>IGFALS</i>Mutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia Karen E. Heath, Jesús Argente, Vicente Barrios, The Journal of Clinical Endocrinology & Metabolism	2008	70
Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis Jana Malíková, Núria Camats, Mónica Fernández‐Cancio, PLoS ONE	2014	44
Structural Pituitary Abnormalities Associated With CHARGE Syndrome Louise Gregory, Evelien Gevers, J. Scott Baker, The Journal of Clinical Endocrinology & Metabolism	2013	44
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, EBioMedicine	2024	35
Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, <scp>X</scp>‐Linked Syndrome A. Martín‐Santiago, Juan A. Hervás, Daniel Hervás, Pediatric Dermatology	2013	19
The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP‐binding residue Kenju Shimomura, Guiomar Pérez de Nanclares, C. Foutinou, Diabetic Medicine	2009	17
ACTYBOSS: Activity, Behavioral Therapy in Young Subjects – After-School Intervention Pilot Project on Obesity Prevention Bartolomé Burguera, Antoni Colom, Estefanía Piñero, Obesity Facts	2011	15

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