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CLINICAL GENETICS
Rivista
Codice:
E038223
ISSN:
0009-9163
Dati Generali
Dati Generali
Pubblicazioni (13)
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Ordina Pubblicazioni:
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A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia
Articolo
A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY
Articolo
DJ-1 is a Parkinson's disease susceptibility gene in southern Italy
Articolo
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH
Articolo
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
Articolo
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3gene
Articolo
Genetic heterogeneity in Malattia Leventinese
Articolo
Genetic heterogeneity in Malattia Leventinese (vol 62, pg 399, 2002)
Articolo
Genetic modelling in schizophrenia according to HLA typing.
Articolo
Metachromatic leukodystrophy-mutation analysis provides further evidence of genotype-phenotype correlation
Articolo
Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1
Articolo
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia
Articolo
novel mutations in the CHST6 gene causing macular corneal dystrophy
Articolo
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