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GENETICS IN MEDICINE
Rivista
Codice:
E069784
ISSN:
1098-3600
Dati Generali
Dati Generali
Pubblicazioni (17)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Articolo
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al
Articolo
DLG4-related synaptopathy: a new rare brain disorder
Articolo
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
Articolo
Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting
Articolo
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
Articolo
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
Articolo
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability
Articolo
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Articolo
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
Articolo
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene
Articolo
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Articolo
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Articolo
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Articolo
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Articolo
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
Articolo
microRNAs as biomarkers in Pompe disease
Articolo
No Results Found
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