Suchergebnisse - "Lastella, Patrizia"

1

Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation

von: Lastella, Patrizia

2011, in: Familial cancer

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2

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

von: Lastella, Patrizia

2006, in: BMC genomics

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3

In silico and in vivo splicing analysis of

von: Guanti Ginevra

2006, in: BMC Genomics

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4

Hypogonadotropic Hypogonadism Associated with Hereditary Hemorrhagic Telengiectasia

von: Scarano Valentina

2013, in: Case Reports in Endocrinology

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5

Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance

von: Geroldi, Alessandro

2017, in: Sperm competition in golden cuttlefish

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6

A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage

von: Loconte, Daria Carmela

2014transfer abstract, in: Chronic Total Occlusion – Percutaneous Coronary Intervention (CTO-PCI) Experience in a Single, Multi-operator Australian Centre: Need for dedicated CTO-PCI programs

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7

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

von: Pierucci Paola

2012, in: Orphanet Journal of Rare Diseases

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8

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

von: Pierucci, Paola

2012, in: Orphanet journal of rare diseases

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9

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility

von: Leone, Maria Pia

2023, in: Human genetics

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