Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.
Scimone C et al.
International Journal of Molecular Sciences, 2020
32560555 (PubMed )
Supplement: ijms-21-04321-s001.zip › S2_Selected_Variants.xlsx › AVM1
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_16
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
Mutation analysis of CBP and PCAF reveals rare inactivating mutations in cancer cell lines but not in primary tumours.
Ozdağ H et al.
British Journal of Cancer, 2002
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