ALBERTO
FERNANDEZ JAEN
PROFESOR
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (4)
2024
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Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
Frontiers in Cell and Developmental Biology, Vol. 12
2023
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654
2018
2016
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Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient
European Journal of Paediatric Neurology, Vol. 20, Núm. 3, pp. 421-425