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AMERICAN JOURNAL OF HUMAN GENETICS
Rivista
Codice:
E007642
ISSN:
0002-9297
Dati Generali
Dati Generali
Pubblicazioni (45)
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Ordina Pubblicazioni:
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8.5 Mb deletion at distal 5p in a male ascertained for azoospermia
Articolo
A "static" karyotype in epithelial cancer cell lines despite ongoing chromosomal instability
Abstract
A "static" karyotype in epithelial cancer cell lines despite ongoing chromsomal instability
Abstract
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION
Abstract
A combined population and family-based study of eight European populations demonstrates association between BDNF and eating disorders.
Articolo
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
Articolo
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
Articolo
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine
Abstract
An approach for screening of Hereditary Hyperferritinemia Cataract Syndrome (HHCS) by a new DG-DGGE method for rapid mutational scanning in ferritin L-chain IRE.
Abstract
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study
Articolo
Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci
Articolo
Correlating array CGH with gene expression and sensitivity to drugs in a panel of 60 human cancer cell lines
Abstract
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B
Abstract
Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease
Articolo
Flexing DNA: HMG-box proteins and their partners
Articolo
Genetic history of PKU mutations in Italy
Articolo
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22
Abstract
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY
Abstract
Heterozygotes identification by chemical cleavage of mismatch
Articolo
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
Articolo
Identification and characterisation of the gene for chorea-acanthocytosis
Abstract
Identification of a new locus for medullary cystic disease, on chromosome 16p12
Articolo
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study
Articolo
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
Articolo
International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16
Articolo
Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome
Articolo
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population
Articolo
Karotypic complexity of the "NCI-60" drug-screening panel
Abstract
Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate
Articolo
Locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28
Articolo
Mapping of three new loci for X-linked mental retardations.
Articolo
Meta-analysis of gene-level associations for rare variants based on single variant statistics
Articolo
Mutation analysis of HLA-H gene in italian Hemochromatosis patients
Articolo
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
Articolo
Mutations in the paraplegin gene (SPG7) in patients with sporadic or autosomal recessive spastic paraplegia are associated with a clinically distinct phenotype.
Articolo
Mutations of UMOD in the tubulo-interstitial diseases MCKD and FJHN associate with intracellular aggregates and excretion reduction of uromodulin
Abstract
Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls.
Articolo
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism
Articolo
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome
Articolo
Olfactory receptor gene clusters mediate common chromosome rearrangements
Abstract
Olfactory receptor-gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements
Articolo
Screening for mutations in the phenylalanine hydroxylase gene in Italian PKU patients using the Chemical cleavage method: a new splice mutation
Articolo
Spectral karyotyping (SKY) in combination with locus-specific FISH, a technique to simultaneously define genes and chromosomes involved in chromosomal translocations
Abstract
The Juvenile Hemochromatosis locus maps to chromosome 1q
Articolo
Transmission of a fully functional human neocentromere through three generations
Articolo
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