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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2023 | 4 |
2024 | 2 |
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Page 1
The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.
Prenat Diagn. 2024 Mar;44(3):343-351. doi: 10.1002/pd.6527. Epub 2024 Jan 29.
Prenat Diagn. 2024.
PMID: 38285371
Free PMC article.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F.
Blayney GV, et al.
Prenat Diagn. 2024 Apr;44(4):422-431. doi: 10.1002/pd.6466. Epub 2023 Dec 6.
Prenat Diagn. 2024.
PMID: 38054560
Free PMC article.
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Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
Harris S, Putra M, Gilmore KL, Vora NL.
Harris S, et al.
Prenat Diagn. 2023 Oct;43(11):1463-1466. doi: 10.1002/pd.6439. Epub 2023 Sep 13.
Prenat Diagn. 2023.
PMID: 37705153
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Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Drexler KA, Talati AN, Gilmore KL, Veazey RV, Powell BC, Weck KE, Davis EE, Vora NL.
Drexler KA, et al.
Genet Med. 2023 Oct;25(10):100915. doi: 10.1016/j.gim.2023.100915. Epub 2023 Jun 13.
Genet Med. 2023.
PMID: 37326029
Free PMC article.
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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E.
Patterson V, et al.
Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26.
Sci Adv. 2023.
PMID: 37126546
Free PMC article.
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