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Pubblicazioni
HUMAN GENETICS
Rivista
Codice:
E078681
ISSN:
0340-6717
Dati Generali
Dati Generali
Pubblicazioni (28)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A 45, X male with a Yp/18 translocation.
Articolo
A highly conserved sequence on the short arm of chromosome 7 detects multiple polymorphisms.
Articolo
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
Articolo
A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus.
Articolo
Cd bands and centromeric function in dicentric chromosomes
Articolo
Chromosomal aberrations in lymphocyte and fibroblast cultures of patients with the sporadic type of Kaposi sarcoma
Articolo
Cloning a new human gene from chromosome 21q22.3 encoding aglutamic acid-rich protein expressed in heart and skeletal muscle
Articolo
Correlation between the numbers of sex chromosomes and the H-Y antigen titer.
Articolo
Cytogenetic analysis reveals clonal proliferation of smooth muscle cells in atherosclerotic plaques
Articolo
Definition of an acquired 11q deletion in a tumorigenic human monocytic cell line.
Articolo
Duplication of the short arms of chromosome 9. Analysis of five cases
Articolo
IL1B gene promoter haplotype pairs predict clinical levels of interleukin-1beta and C-reactive protein.
Articolo
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function.
Articolo
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
Articolo
Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure
Articolo
Partial trisomy 1 due to 1/17 translocation in Ph'-positive Chronic Myelocytic leukemia
Articolo
Pathogenetic significance of "pure" monosomy 7 in myeloproliferative disorders. Analysis of 14 cases
Articolo
Shortdirect repeats at the breakpoints of a novel large deletion in the CFTR genesuggest a likely slipped mispairing mechanism
Articolo
The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families
Articolo
The 11q;22q translocation: a european collaborative analysis of 43 cases
Articolo
The Turner phenotype and the different types of human X isochromosome.
Articolo
The isochromosome (17q) in chronic myelocytic leukaemia: mechanism of origin, centromeric function and clonal evolution
Articolo
The origin and phenotype of X0 males
Articolo
Three chromosomes' (7;9;22) rearrangement and the origin of the Philadelphia chromosome
Articolo
Transposition of 9q34 and 22 (q11-qter) regions has a specific role in chronic myelocytic leukemia
Articolo
Transposition of c–abl oncogene in a case of masked Ph chromosome duplicated in blastic phase
Articolo
Type I procollagen in the severe non-lethal form of osteogenesis imperfecta.
Articolo
Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile
Articolo
No Results Found
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