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1دورية أكاديمية
المؤلفون: de Almeida Duarte, Cristiane Mendes, Balbo Piazzon, Flavia, Rocco, Isadora Salvador, de Mello, Claudia Berlim
المصدر: Jornal de Pediatria, 99 (5), 507 - 513 (2023)
مصطلحات موضوعية: Cognition, Diet therapy, Executive functions, Phenylketonuria, Theory of mind, Phenylalanine, Humans, Child, Social Cognition, Neuropsychological Tests, Executive Function, Phenylketonurias/complications, Phenylketonurias, Pediatrics, Perinatology and Child Health, Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie
Relation: https://api.elsevier.com/content/article/PII:S0021755723000566?httpAccept=text/xml; urn:issn:0021-7557; urn:issn:1678-4782
URL الوصول: https://orbi.uliege.be/handle/2268/314092
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2دورية أكاديمية
المؤلفون: Olivati, Caroline, Favilla, Bianca Pereira, Freitas, Erika Lopes, Santos, Bibiana, Melaragno, Maria Isabel, Meloni, Vera Ayres, Balbo Piazzon, Flavia
المصدر: Molecular Genetics and Metabolism Reports, 31, 100879 (2022)
مصطلحات موضوعية: Allan-Herndon-Dudley syndrome, SLC16A2 gene, X-chromosome inactivation, Molecular Biology, Genetics, Endocrinology, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
Relation: https://api.elsevier.com/content/article/PII:S2214426922000398?httpAccept=text/xml; urn:issn:2214-4269
URL الوصول: https://orbi.uliege.be/handle/2268/313170
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3دورية أكاديمية
المؤلفون: Nunes, Natália, Zamariolli, Malú, Dantas, Anelisa Gollo, Cola, Paula, de Agostinho Júnior, Francisco, Balbo Piazzon, Flavia, Meloni, Vera Ayres, Melaragno, Maria Isabel
المصدر: European Journal of Medical Genetics, 65 (3), 104440 (2022)
مصطلحات موضوعية: CEDNIK syndrome, Cerebral dysgenesis, Deletion, Ichthyosis, Keratoderma, Mutation, Neuropathy, Qb-SNARE Proteins, Qc-SNARE Proteins, Brazil, Humans, Neurocutaneous Syndromes, Phenotype, Qb-SNARE Proteins/genetics, Keratoderma, Palmoplantar/genetics, Keratoderma, Palmoplantar/pathology, Qc-SNARE Proteins/genetics, Keratoderma, Palmoplantar, Genetics, Genetics (clinical), General Medicine, Life sciences, Genetics & genetic processes, Human health sciences, Neurology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Neurologie
Relation: https://api.elsevier.com/content/article/PII:S1769721222000210?httpAccept=text/xml; urn:issn:1769-7212; urn:issn:1878-0849
URL الوصول: https://orbi.uliege.be/handle/2268/313274