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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 1 |
2023 | 4 |
2024 | 0 |
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5 results
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Page 1
TOPORS as a novel causal gene for Joubert syndrome.
Am J Med Genet A. 2023 Aug;191(8):2156-2163. doi: 10.1002/ajmg.a.63303. Epub 2023 May 25.
Am J Med Genet A. 2023.
PMID: 37227088
CRISPR gene-editing therapies for hypertrophic cardiomyopathy.
Strong A.
Strong A.
Nat Med. 2023 Feb;29(2):305-306. doi: 10.1038/s41591-022-02184-5.
Nat Med. 2023.
PMID: 36797479
Free PMC article.
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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC.
Strong A, et al.
Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7.
Am J Med Genet A. 2023.
PMID: 36751037
Free PMC article.
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Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.
Strong A, Behr M, Lott C, Clark AJ, Mentch F, Da Silva RP, Rux DR, Campbell R, Skraban C, Wang X, Anari JB, Sinder B, Cahill PJ, Sleiman P, Hakonarson H.
Strong A, et al.
Sci Rep. 2023 Jan 18;13(1):991. doi: 10.1038/s41598-023-27641-0.
Sci Rep. 2023.
PMID: 36653407
Free PMC article.
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TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N.
Li G, et al.
Am J Med Genet A. 2022 Dec;188(12):3469-3481. doi: 10.1002/ajmg.a.62972. Epub 2022 Sep 26.
Am J Med Genet A. 2022.
PMID: 36161696
Free PMC article.
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