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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2023 | 5 |
2024 | 2 |
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5 results
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Page 1
The importance of patient-specific resources for families dealing with prenatal rare diseases.
Am J Med Genet A. 2024 Mar;194(3):e63450. doi: 10.1002/ajmg.a.63450. Epub 2023 Oct 20.
Am J Med Genet A. 2024.
PMID: 37861066
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE.
Nriagu BN, et al.
Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13.
Am J Med Genet A. 2024.
PMID: 37705207
Free PMC article.
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Segmental vasoconstricted patches with a border of telangiectasia.
Zarowin D, Heymann WR, Yan AC, Treat J, Sheppard SE.
Zarowin D, et al.
Pediatr Dermatol. 2023 May-Jun;40(3):565-567. doi: 10.1111/pde.15227.
Pediatr Dermatol. 2023.
PMID: 37212738
Free PMC article.
No abstract available.
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Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H.
Sheppard SE, et al.
JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888.
JCI Insight. 2023.
PMID: 37154160
Free PMC article.
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Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
Bolli A, Nriagu B, Britt AD, Toole AD, Treat J, Srinivasan A, Sheppard SE.
Bolli A, et al.
Am J Med Genet A. 2023 May;191(5):1442-1446. doi: 10.1002/ajmg.a.63121. Epub 2023 Jan 25.
Am J Med Genet A. 2023.
PMID: 36695285
Free PMC article.
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