Concepedia

Rafael Muñoz‐Pacheco

RM

Statistics

Publications

3

Citations

75

H-Index

3

Active since

2006

Affiliations

Hospital General Universitario Gregorio Marañón(Current)

Hospital Universitario Ramón y Cajal

Centre for Biomedical Network Research on Rare Diseases

Instituto de Investigación de Enfermedades Raras

Instituto de Salud Carlos III

Rafael Muñoz‐Pacheco is an author at Hospital General Universitario Gregorio Marañón specializing in neuropathology, medicine, and pathology.

Top concepts

Publications per year

2006–2011

3

Publications

3

Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis

Begoña Ezquieta, Magdalena Beneyto, Rafael Muñoz‐Pacheco et al. · Prenatal Diagnosis · 2006 · 41 citations

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria

Atilano Carcavilla, Isabel Pinto, Rafael Muñoz‐Pacheco et al. · European Journal of Pediatrics · 2011 · 21 citations

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Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify ‘apparently mild’ CYP21A2 alleles which associate neonatal salt‐wasting disease

Begoña Ezquieta, Luis Santomé, Raquel Barrio et al. · Prenatal Diagnosis · 2010 · 13 citations

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