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Year Number of Results
2016 1
2017 66
2018 223
2019 188
2020 140
2021 1
2024 0

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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine. Sparks TN, et al. N Engl J Med. 2020 Oct 29;383(18):1746-1756. doi: 10.1056/NEJMoa2023643. Epub 2020 Oct 7. N Engl J Med. 2020. PMID: 33027564 Free PMC article.
Proteoglycans in brain development and pathogenesis.
Schwartz NB, Domowicz MS. Schwartz NB, et al. FEBS Lett. 2018 Dec;592(23):3791-3805. doi: 10.1002/1873-3468.13026. Epub 2018 Mar 23. FEBS Lett. 2018. PMID: 29513405 Free article. Review.
The eggstraordinary story of how life begins.
Parrington J, Arnoult C, Fissore RA. Parrington J, et al. Mol Reprod Dev. 2019 Jan;86(1):4-19. doi: 10.1002/mrd.23083. Epub 2018 Nov 30. Mol Reprod Dev. 2019. PMID: 30411426 Free PMC article. Review.
515 results