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JOURNAL OF MEDICAL GENETICS
Rivista
Codice:
E092698
ISSN:
0022-2593
Dati Generali
Dati Generali
Pubblicazioni (27)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
Articolo
A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian-speaking population
Articolo
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
Articolo
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25
Articolo
An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis
Articolo
Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients [2]
Articolo
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
Articolo
COLD-PCR and microarray: Two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma
Articolo
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no hematological or neurological symptoms
Articolo
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
Articolo
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
Articolo
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions
Articolo
Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts
Articolo
Genomic architecture and chromosome rearrangements
Abstract
Haploinsufficiency for a gene in a 8 cM region at 6q24-25 results in agenesis of corpus callosum with Probst bundles
Articolo
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission
Articolo
Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations
Articolo
Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia
Articolo
Molecular analysis of contiguous exons of phenylalanine hydroxylase: identification of a novel PKU mutation
Articolo
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Articolo
Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction
Articolo
Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma
Articolo
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
Articolo
Report on the International Workshop on Molecular Genetics of hemochromatosis
Articolo
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis
Articolo
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
Articolo
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies
Articolo
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