MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Hospital Universitario Puerta de Hierro
Madrid, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario Puerta de Hierro (6)
2022
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Editorial: NGS technologies of rare diseases diagnosis
Frontiers in Pediatrics
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Journal of Clinical Medicine, Vol. 11, Núm. 10
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Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105
2021
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Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome
International Journal of Molecular Sciences, Vol. 22, Núm. 24
2018
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Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain
Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221
2016
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Vertically transmitted cytomegalovirus infection in newborn preterm infants
Journal of Perinatal Medicine, Vol. 44, Núm. 5, pp. 485-490