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GENETICS IN MEDICINE
Rivista
Codice:
E069784
ISSN:
1098-3600
Dati Generali
Dati Generali
Pubblicazioni (7)
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Articolo
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Articolo
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (Genetics in Medicine, (2020), 22, 1, (15-25), 10.1038/s41436-019-0596-9)
Articolo
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
Articolo
MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration
Articolo
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
Articolo
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Articolo
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