Navegar por autor "Castro Gago, Manuel"

16p11.2 microdeletion associated to early onset benign childhood seizures

2013- Barros Angueira, Francisco; Castro Gago, Manuel; Gómez Lado, María del Carmen; Perez Gay, Laura; Dacruz Álvarez, David [et al.]

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

2015- Carracedo Álvarez, Ángel; Barros Angueira, Francisco; Castro Gago, Manuel; Eiris Puñal, Jesús; Lago Lestón, Ramón Manuel [et al.]

A Xq21.31 duplication without features of Prader-Willi syndrome

2013- Barros Angueira, Francisco; Castro Gago, Manuel; Gómez Lado, María del Carmen; Perez Gay, Laura

Análisis de la demanda asistencial en Urgencias pediátricas en un Centro de Salud semiurbano de Galicia

2011- Castro Gago, Manuel; Baamonde Rodríguez, Luis; Dorribo Masid, Marta

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

2014- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Castro Gago, Manuel; [et al.]

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

2015- Castro Gago, Manuel

Chromosomopathy manifesting as mitochondrial disease.

2011- Castro Gago, Manuel; Perez Gay, Laura; Eiris Puñal, Jesús; Blanco Barca, Manuel Oscar

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

2015- Carracedo Álvarez, Ángel; Barros Angueira, Francisco; Castro Gago, Manuel; Eiris Puñal, Jesús

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

2015- Beiras Iglesias, Andrés; Castro Gago, Manuel; Pintos Martínez, Elena; Dacruz Álvarez, David

Deleción en el gen RPS6KA3 en una mujer con un fenotipo clásico del síndrome de Coffin-Lowry incluyendo episodios de caída inducidos por estímulo

2015- Carracedo Álvarez, Ángel; Castro Gago, Manuel; Perez Gay, Laura; Eiris Puñal, Jesús

Dravet syndrome and mitochondrial dysfunction

2011- Castro Gago, Manuel; Perez Gay, Laura; Eiris Puñal, Jesús

Enfermedad de alpers juvenil

2013- Rodríguez Núñez, Antonio; Castro Gago, Manuel; Gómez Lado, María del Carmen; Perez Gay, Laura; Eiris Puñal, Jesús; [et al.]

Epidemiología de la enfermedad de Lyme en un área sanitaria del noroeste de España

2015- Castro Gago, Manuel; Pego Reigosa, Robustiano; Vázquez López, Esther

Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes.

2011- Gómez-Carballa, Alberto; Cerezo, María; Balboa Beltrán, Emilia; Heredia Ramírez, Claudia Emilia; Castro Feijoo, Lidia; [et al.]

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

2014- Beiras Iglesias, Andrés; Castro Gago, Manuel; Pintos Martínez, Elena; Dacruz Álvarez, David

Interstitial Microdeletions Including the Chromosome Band 4q13.2 and the UBA6 Gene as Possible Causes of Intellectual Disability and Behavior Disorder

2015- Carracedo Álvarez, Ángel; Barros Angueira, Francisco; Fernández Prieto, Montserrat; Castro Gago, Manuel; Gómez Lado, María del Carmen; [et al.]

Intrathecal baclofen for progressive neurological disease in children

2013- Castro Gago, Manuel; Gómez Lado, María del Carmen; Perez Gay, Laura

Repositorio digital RUNA

Navegar por autor "Castro Gago, Manuel"

16p11.2 microdeletion associated to early onset benign childhood seizures ﻿

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features ﻿

A Xq21.31 duplication without features of Prader-Willi syndrome ﻿

Análisis de la demanda asistencial en Urgencias pediátricas en un Centro de Salud semiurbano de Galicia ﻿

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders ﻿

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 ﻿

Chromosomopathy manifesting as mitochondrial disease. ﻿

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome ﻿

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene ﻿

Deleción en el gen RPS6KA3 en una mujer con un fenotipo clásico del síndrome de Coffin-Lowry incluyendo episodios de caída inducidos por estímulo ﻿

Dravet syndrome and mitochondrial dysfunction ﻿

Enfermedad de alpers juvenil ﻿

Epidemiología de la enfermedad de Lyme en un área sanitaria del noroeste de España ﻿

Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes. ﻿

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion ﻿

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis ﻿

Growth in children and adolescents with mitochondrial diseases ﻿

Hemimegalencephaly in children-Some clinical and genetic aspects ﻿

Interstitial Microdeletions Including the Chromosome Band 4q13.2 and the UBA6 Gene as Possible Causes of Intellectual Disability and Behavior Disorder ﻿

Intrathecal baclofen for progressive neurological disease in children ﻿

16p11.2 microdeletion associated to early onset benign childhood seizures

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

A Xq21.31 duplication without features of Prader-Willi syndrome

Análisis de la demanda asistencial en Urgencias pediátricas en un Centro de Salud semiurbano de Galicia

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Chromosomopathy manifesting as mitochondrial disease.

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

Deleción en el gen RPS6KA3 en una mujer con un fenotipo clásico del síndrome de Coffin-Lowry incluyendo episodios de caída inducidos por estímulo

Dravet syndrome and mitochondrial dysfunction

Enfermedad de alpers juvenil

Epidemiología de la enfermedad de Lyme en un área sanitaria del noroeste de España

Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes.

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis

Growth in children and adolescents with mitochondrial diseases

Hemimegalencephaly in children-Some clinical and genetic aspects

Interstitial Microdeletions Including the Chromosome Band 4q13.2 and the UBA6 Gene as Possible Causes of Intellectual Disability and Behavior Disorder

Intrathecal baclofen for progressive neurological disease in children