Elena Dominguez Garrido (Elena Domínguez-Garrido, Elena Dominguez-Garrido)

ORCID

Publication Activity (10 Years)

Years Active: 2015-2022
Publications (10 Years): 5

Top Venues

Molecular genetics & genomic medicine

Clinical case reports

European journal of human genetics : EJHG

Orphanet journal of rare diseases

Fundacion Rioja Salud

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Fundacion Rioja Salud Jan 18 2008

Spain

Director :: Molecular Diagnostic Unit

Publications

Cristina Toledo-Gotor, Cristina García-Muro, Alberto García-Oguiza, Mª Luisa Poch-Olivé, Mª Yolanda Ruiz-Del Prado, Elena Dominguez Garrido
Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC. Molecular genetics & genomic medicine 10 (5) (2022)
Maria López, Virginia Pérez-Grijalba, Inmaculada García-Cobaleda, Elena Dominguez Garrido
A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data. Clinical case reports 8 (12) (2020)
Enrique Ramalle-Gómara, Elena Dominguez Garrido, María Gómez-Eguílaz, María Eugenia Marzo-Sola, José Luis Ramón-Trapero, Josefa Gil-de-Gómez
Education and information needs for physicians about rare diseases in Spain. Orphanet journal of rare diseases 15 (1) (2020)
Thomas Liehr, Isabel M Carreira, Zsofia Balogh, Elena Dominguez Garrido, Irmgard Verdorfer, Domenico A Coviello, Lina Florentin, Hans Scheffer, Martina Rincic, Heather E Williams
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries. European journal of human genetics : EJHG 27 (8) (2019)
Virginia Pérez-Grijalba, Alberto García-Oguiza, María López, Judith Armstrong, Sixto García-Miñaur, Jose María Mesa-Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos-Arroyo, Fernando Santos-Simarro, Verónica Seidel, Elena Dominguez Garrido
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients. Molecular genetics & genomic medicine 7 (11) (2019)
Cristina Cervera-Acedo, Maria Lopez, Jana Aguirre-Lamban, Paula Santibañez, Alberto Garcia-Oguiza, Maria Luisa Poch-Olive, Elena Dominguez Garrido
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency. Human genome variation 2 (2015)

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Publication Activity (10 Years)

Top Topics

Top Venues

Elena Dominguez Garrido (Elena Domínguez-Garrido, Elena Dominguez-Garrido)