Concepedia

Purificación Marín Reina

PM

Statistics

Publications

9

Citations

345

H-Index

9

Active since

2014

Affiliations

Hospital Universitari i Politècnic La Fe(Current)

Instituto de Investigación de Enfermedades Raras

Centre for Biomedical Network Research on Rare Diseases

Hospital General Universitario De Valencia

Rigshospitalet

Purificación Marín Reina is an author at Hospital Universitari i Politècnic La Fe specializing in life sciences, genetics, and medical genetics.

Publications per year

2014–2022

9

Publications

9

Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome

Antonio Pérez Aytés, Purificación Marín Reina, Virginia Bosó et al. · European Journal of Medical Genetics · 2016 · 99 citations

Life Sciences, Developmental Biology, Pathology +13

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Francisco Martı́nez, Purificación Marín Reina, A. Sanchís Calvo et al. · Pediatric Research · 2015 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Roser Urreizti, Estrella López‐Martín, Antonio Federico Martínez‐Monseny et al. · Orphanet Journal of Rare Diseases · 2020 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mowat-Wilson syndrome: growth charts

Ivan Ivanovski, Olivera Djurić, Serena Broccoli et al. · Orphanet Journal of Rare Diseases · 2020 · 19 citations · Full text

Life Sciences, Genetics, Pediatrics +17

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