Concepedia

A. Sanchís Calvo

AS

Statistics

Publications

3

Citations

195

H-Index

3

Active since

2015

Affiliations

Hospital Universitario Doctor Peset(Current)

Hospital Universitari i Politècnic La Fe

Hospital Universitario Son Espases

Koç University

Centre for Biomedical Network Research on Rare Diseases

A. Sanchís Calvo is an author at Hospital Universitario Doctor Peset specializing in medical genetics, rare disease genetics, and genetic syndromes.

ORCID

Publications per year

2015–2019

3

Publications

3

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 134 citations · Full text

, , +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

, , +10

Heterozygous pathogenic variants in<i>GLI1</i>are a common finding in isolated postaxial polydactyly A/B

Adrián Palencia‐Campos, María‐Luisa Martínez‐Fernández, Umut Altunoğlu et al. · Human Mutation · 2019 · 10 citations

, , +16

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