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EUROPEAN JOURNAL OF HUMAN GENETICS
Rivista
Codice:
E060666
ISSN:
1018-4813
Dati Generali
Dati Generali
Pubblicazioni (38)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Articolo
A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia
Articolo
A new candidate region for the positional cloning of the XLP gene
Articolo
Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations
Articolo
Association of DLG5 R30Q variant with inflammatory bowel disease
Articolo
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population
Articolo
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy
Articolo
Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis
Articolo
Exclusion of the SCN2B gene as candidate for CMT4B
Articolo
Exploiting the Whole Exome Sequencing for the identification of new candidate genes associated with Brugada Syndrome
Abstract
Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus - A GISC study
Articolo
Genetic analysis of two unrelated Italian families with non specific X-mental retardation
Articolo
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets
Articolo
Genetics can contribute to the prognosis of the Brugada syndrome: a pilot model for risk stratification.
Articolo
Genomic and transcriptional profiling of acute myeloid leukemia by next-generation sequencing unravels patient-specific patterns of post-transplantation relapse
Abstract
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
Articolo
Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19
Articolo
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease
Articolo
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
Abstract
Hypertension among Italian high school students: genetic and environmental factors. Results from HYGEF project
Abstract
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q
Articolo
Inverted duplications: how many of them are mosaic?
Articolo
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity
Articolo
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity
Articolo
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
Articolo
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements
Articolo
Polygenic risk scores for hypertension risk stratification
Abstract
Rete IDEA: solving the unsolved diagnoses of primary immunodeficiency
Abstract
Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detect by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts
Articolo
Single-cell transcriptomics uncovers cellular and molecular determinants of tissue myeloid cell heterogeneity in homeostasis and cancer
Abstract
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Articolo
THE HLA-DQΒ1 INSERTION IS A STRONG ACHALASIA RISK FACTOR AND DISPLAYS A GEOSPATIAL NORTH-SOUTH GRADIENT AMONG EUROPEANS
Articolo
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
Articolo
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy
Articolo
Towards cross-border access to human genomes and clinical information at scale for research and healthcare
Abstract
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction
Articolo
Two de novo mutations in the Na, K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine
Articolo
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome
Articolo
No Results Found
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