about
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange SyndromeDevelopment and validation of a multiplex-PCR assay for X-linked intellectual disability.Variobox: automatic detection and annotation of human genetic variants.FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesThe TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.Mutation analysis in patients with total sperm immotilityDominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.Bilirubin levels and redox status in a young healthy population.Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.Bilirubin dependence on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.A family with 2 different hereditary diseases leading to early cardiac involvement.Lipoprotein(a) levels in obese Portuguese children and adolescents: contribution of the pentanucleotide repeat (TTTTA)n polymorphism in the apolipoprotein(a) gene.Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.Oxidized low-density lipoprotein and lipoprotein(a) levels in chronic kidney disease patients under hemodialysis: influence of adiponectin and of a polymorphism in the apolipoprotein(a) gene.New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy ScreeningImpact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjectsHematologically important mutations: Shwachman–Diamond syndromeIdentification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman–Diamond syndromePrivate dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South AmericaAtypical phenotype in two patients with LAMA2 mutationsUnveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enoughClinical and Genetic Analysis of Children with Kartagener SyndromeIdentification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
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description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Rosário Santos
@ast
Rosário Santos
@en
Rosário Santos
@es
Rosário Santos
@nl
Rosário Santos
@sl
type
label
Rosário Santos
@ast
Rosário Santos
@en
Rosário Santos
@es
Rosário Santos
@nl
Rosário Santos
@sl
prefLabel
Rosário Santos
@ast
Rosário Santos
@en
Rosário Santos
@es
Rosário Santos
@nl
Rosário Santos
@sl
P106
P1153
7201375082
P21
P31
P496
0000-0002-8594-6377