Research Output per year
Research Output per year
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Dive into the research topics where Consultative and Diagnostic Medicine is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
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Research Output
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Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma
MacKlin-Mantia, S. K., Hines, S. L., Chaichana, K. L., Donaldson, A. M., Ko, S. L., Zhai, Q., Samadder, N. J. & Riegert-Johnson, D. L., Aug 17 2020, In : BMC medical genetics. 21, 1, 161.Research output: Contribution to journal › Article › peer-review
Open Access -
Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy
Ahuja, A. S., Selvam, P., Vadlamudi, C., Chopra, H., Richter, J. E., Macklin, S. K., Samreen, A., Helmi, H., Mohammaad, A. N., Hines, S., Davila, M. C., Atwal, P. S. & Caulfield, T. R., Dec 2020, In : Ophthalmic Genetics. 41, 6, p. 563-569 7 p.Research output: Contribution to journal › Article › peer-review
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Patients’ views on variants of uncertain significance across indications
Clift, K., Macklin, S., Halverson, C., McCormick, J. B., Abu Dabrh, A. M. & Hines, S., Apr 1 2020, In : Journal of Community Genetics. 11, 2, p. 139-145 7 p.Research output: Contribution to journal › Review article › peer-review
1 Scopus citations