Miguel Fernández-Burriel

Publication Activity (10 Years)

Years Active: 2018-2021
Publications (10 Years): 2

Top Topics

Transcription Factor

Genome Wide Identification

Intellectual Disability

Top Venues

Scientific reports

Clinical genetics

Servicio Extremeño de Salud

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

Affiliation History

Servicio Extremeño de Salud May 01 2005

Spain

FACULTATIVO ESPECIALISTA DE ÁREA :: UNIDAD DE GENÉTICA

Servicio Canario de Salud Jul 23 1992 - May 01 2005

Spain

FACULTATIVO ESPECIALISTA DE ÁREA :: UNIDAD DE GENÉTICA

Publications

Ignacio Arroyo Carrera, Miguel Fernández-Burriel, Pablo Lapunzina, Jair Antonio Tenorio Castaño, Verónica Deyanira García Navas, Elena Márquez Isidro
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum. Clinical genetics 99 (6) (2021)
Carla Fuster-García, Gema García-García, Teresa Jaijo, Neus Fornés, Carmen Ayuso, Miguel Fernández-Burriel, Ana Sánchez-De la Morena, Elena Aller, José M Millán
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. Scientific reports 8 (1) (2018)