Skip to Main Content (Press Enter)
×
Home
Persone
Strutture
Competenze
Pubblicazioni
Professioni
Corsi
Insegnamenti
Terza Missione
IT
EN
☰
Competenze & Professionalità
|
Competenze & Professionalità
unibs.it
IT
EN
×
Home
Persone
Strutture
Competenze
Pubblicazioni
Professioni
Corsi
Insegnamenti
Terza Missione
☰
Pubblicazioni
HUMAN MUTATION
Rivista
Codice:
E078695
ISSN:
1059-7794
Dati Generali
Dati Generali
Pubblicazioni (26)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A -96C-T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolys bullosa
Articolo
A Pan-European study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability and Intermediate Repeats.
Articolo
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Articolo
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
Articolo
Are we overestimating the penetrance of mutations in SDHB?
Articolo
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
Articolo
C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome
Articolo
Denaturing HPLC analysis of DNA deletions and insertions
Articolo
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Articolo
Identification of nine novel nutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia.
Articolo
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Articolo
Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
Articolo
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
Articolo
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
Articolo
Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease.
Articolo
NORTH EURASIAN ORIGIN OF THE MYOTONIC DYSTROPHY MUTATION.
Articolo
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Articolo
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
Articolo
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency
Articolo
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Articolo
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Articolo
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis
Articolo
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
Articolo
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts
Articolo
Type I hyperprolinemia: genotype/phenotype correlations
Articolo
p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy
Articolo
No Results Found
«
‹
{pageNumber}
›
»
{startItem} - {endItem} di {itemsNumber}
5 per pagina
10 per pagina
30 per pagina
vedi tutti
