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1 . Academic Journal
Neurological sequelae in patients with congenital cytomegalovirus
저자
by
de Juan Gallach, Alba
;
Alemany Albert, Marta
;
Marco Hernández, Ana Victoria
;
Boronat González, Nuria
;
Cernada Badía, María
, et al.
소스
In
Anales de Pediatría (English Edition)
August 2020 93(2):111-117
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7 . Academic Journal
Secuelas neurológicas en pacientes con infección congénita por citomegalovirus
저자
by
de Juan Gallach, Alba
;
Alemany Albert, Marta
;
Marco Hernández, Ana Victoria
;
Boronat González, Nuria
;
Cernada Badía, María
, et al.
소스
In
Anales de Pediatria
August 2020 93(2):111-117
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Full Text (ScienceDirect O/A)
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7 . Academic Journal
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.
저자
by
Marco Hernández, Ana Victoria
;
Caro, Alfonso
;
Montoya Filardi, Alejandro
;
Tomás Vila, Miguel
;
Monfort, Sandra
, et al.
소스
American Journal of Medical Genetics. Part A; Jan2022, Vol. 188 Issue 1, p147-159, 13p
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7 . Academic Journal
Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.
저자
by
Marco Hernández, Ana Victoria
;
Tomás Vila, Miguel
;
Caro Llopis, Alfonso
;
Monfort, Sandra
;
Martinez, Francisco
.
소스
Frontiers in Neurology; 11/30/2021, Vol. 12, p1-9, 9p
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7 . Academic Journal
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1 - and SLC2A1 -Related Disorders.
저자
by
Kegele, Josua
;
Krüger, Johanna
;
Koko, Mahmoud
;
Lange, Lara
;
Marco Hernandez, Ana Victoria
, et al.
소스
Frontiers in Neurology; 7/8/2021, Vol. 12, p1-8, 8p
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7 .
The LINCE Project: A Pathway for Diagnosing NCL2 Disease
저자
by
Rodrigues, Daniel
;
de Castro, María José
;
Crujeiras, Pablo
;
Duat Rodriguez, Anna
;
Marco Hernández, Ana Victoria
, et al.
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Scientia
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7 .
Análisis fenotípico y genotípico de los pacientes con trastornos del neurodesarrollo en los que se ha detectado alteraciones patogénicas en el estudio de secuencicación masiva
저자
by
Marco Hernández, Ana Victoria
;
Vitoria Miñana, Isidro
;
Tomás Vila, Miguel
;
Martínez Castellano, Francisco
;
Departament de Pediatria, Obstetrícia i Ginecologia
.
소스
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
Open Access (OpenAIRE)
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7 .
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability
저자
by
Marco Hernandez, Ana Victoria
;
Caro, Alfonso
;
Montoya Filardi, Alejandro
;
Tomas Vila, Miguel
;
Monfort, Sandra
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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7 . Periodical
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
저자
by
Nieto-Barcelo, Juan Jose
;
Gonzalez Montes, Noelia
;
Gonzalo Alonso, Isabel
;
Martinez, Francisco
;
Aparisi, Maria Jose
, et al.
소스
Journal of Pediatric Genetics; 20210101, Issue: Preprints
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