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AMERICAN JOURNAL OF HUMAN GENETICS
Rivista
Codice:
E007642
ISSN:
0002-9297
Dati Generali
Dati Generali
Pubblicazioni (37)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: Evidence for conserved function in oogenesis and implications for human sterility
Articolo
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy
Articolo
AIRE modulates IFN- expression in T lymphocytes.
Abstract
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Articolo
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hiper IgM syndrome of various ancestry.
Articolo
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.
Articolo
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Articolo
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV
Articolo
Copy number disorders are a Common Cause of Congenital Kidney Malformations
Articolo
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Articolo
Deletion of Azoospermia Factor b(AZFb) in infertile men caused by non-homologous recombination between Alu and LINE-1 elements.
Articolo
ELOVL5 mutations cause spinocerebellar ataxia 38.
Articolo
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.
Articolo
Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci.
Articolo
Genetic linkage of IgA deficiency due to the Major Histocompatibility Complex: evidence for segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA sntibodies in disease predisposition.
Articolo
Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mithocondrial DNA
Articolo
HIGH RESIDUAL ARYLSULFATASE A (ARSA) ACTIVITY IN A PATIENT WITH LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY
Articolo
HUMAN HOMOLOGUE SEQUENCES OF THE DROSOPHILA DISHEVELLED GENE POLARITY GENE IN THE DIGEORGE SYNDROME.
Articolo
IDENTIFICATION OF A NEW LOCUS FOR MEDULLARY CYSTIC DISEASE ON CHROMOSOME 16
Articolo
IDENTIFICATION OF THE GENE FOR ORAL-FACIAL-DIGITAL TYPE 1 SYNDROME
Articolo
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa
Articolo
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.
Articolo
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G Mutation
Articolo
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
Articolo
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Articolo
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Articolo
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Articolo
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Articolo
Origin, diffusion and differentiation of Y-chromosome haplogroups E and J: inferences on the Neolithization of Europe and later migratory events in the Mediterranean area
Articolo
Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe
Articolo
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
Articolo
Saami and Berbers--an unexpected mitochondrial DNA link
Articolo
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
Articolo
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool
Articolo
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene
Articolo
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats
Articolo
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and novel gene containing WD-40 repeats
Articolo
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