PEDIATRIA KLINIKOA ETA GAIXOTASUN ARRAROAK
Hospital Universitario Araba
Vitoria, EspañaHospital Universitario Araba-ko ikertzaileekin lankidetzan egindako argitalpenak (15)
2022
-
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366
2021
-
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
-
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
-
Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience
Children, Vol. 8, Núm. 11
2020
2018
-
What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
2015
2013
-
A novel form of human disease
Prion Biology: Research and Advances (Apple Academic Press), pp. 179-210
-
Brachydactyly E: Isolated or as a feature of a syndrome
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
2012
-
Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: A case report
Journal of Medical Case Reports, Vol. 6
2010
-
Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 7, pp. 1283-1291
2005
-
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease
Neurology, Vol. 64, Núm. 9, pp. 1578-1585
-
Ancestral origins of the prion protein gene D178N mutation in the Basque Country
Human Genetics, Vol. 117, Núm. 1, pp. 61-69
-
Phenotypic variability in familial prion diseases due to the D178N mutation
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 76, Núm. 11, pp. 1491-1496
2003
-
5-Hydroxytryptamine 6 receptor (5-HT6) receptor and apolipoprotein E (ApoE) polymorphisms in patients with Alzheimer's disease in the Basque Country
Neuroscience Letters, Vol. 339, Núm. 1, pp. 85-87