clinical genetics

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1
pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler, Ellen M;Regalado, Ellen S;Guo, Dong-Chuan;Hanna, Nadine;Arnaud, Pauline;Muiño-Mosquera, L...
2019 journal of medical genetics DOI: 10.1136/jmedgenet-20... 232 views
2
CM-Score: a validated scoring system to predict germline mutations in melanoma families from Northern Europe.
Potjer, Thomas P;Helgadottir, Hildur;Leenheer, Mirjam;van der Stoep, Nienke;Gruis, Nelleke A;Höiom,...
2018 journal of medical genetics DOI: 10.1136/jmedgenet-20... 248 views
3
Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs.
Miller, David T;Cortés-Ciriano, Isidro;Pillay, Nischalan;Hirbe, Angela C;Snuderl, Matija;Bui, Marily...
2020 genes DOI: E387 304 views
4
Spherical Kernel for Efficient Graph Convolution on 3D Point Clouds.
Lei, Huan;Akhtar, Naveed;Mian, Ajmal;
2020 ieee transactions on pattern analysis and machine... DOI: 10.1109/TPAMI.2020.2... 264 views
5
fine-mapping of 18q21.1 locus identifies single nucleotide polymorphisms associated with nonsyndromic cleft lip with or without cleft palate
;AMIT KUMAR MITRA;Holly eStessman;Robert eSchaefer;Wen eWang;Chad eMyers;Brian eVan Ness;Soraya eBei...
2016 chemical record (new york, ny) DOI: 10.3389/fgene.2016.0... 242 views

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genetics cardiovascular medicine connective tissue disease genetic epidemiology cancer: dermatological cancer: head and neck genetic screening/counselling genomics pathology next generation sequencing mpnst neurofibromatosis tumor evolution exome sequencing complex traits cleft lip myo5bgenetics