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The genetic etiologies of bilateral renal agenesis.
Kirschen GW, Blakemore K, Al-Kouatly HB, Fridkis G, Baschat A, Gearhart J, Jelin AC. Kirschen GW, et al. Prenat Diagn. 2024 Feb;44(2):205-221. doi: 10.1002/pd.6516. Epub 2024 Jan 5. Prenat Diagn. 2024. PMID: 38180355 Review.
Maternal implications of placental transfusion.
Uribe K, Chiruvolu A, Jelin AC. Uribe K, et al. Semin Perinatol. 2023 Jun;47(4):151733. doi: 10.1016/j.semperi.2023.151733. Epub 2023 Mar 17. Semin Perinatol. 2023. PMID: 37068968
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Alkhunaizi E, Martin N, Jelin AC, Rosner M, Bailey DJ, Steiner LA, Lakhani S, Ji W, Katzman PJ, Forster KR, Jarinova O, Shannon P, Chitayat D; Care4Rare Canada Consortium. Alkhunaizi E, et al. Am J Med Genet A. 2023 Mar;191(3):760-769. doi: 10.1002/ajmg.a.63071. Epub 2022 Dec 10. Am J Med Genet A. 2023. PMID: 36495114 Free PMC article.
Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Beck NM, Sagaser KG, Lawson CS, Hertenstein C, Jachens A, Forster KR, Miller KA, Jelin AC, Blakemore KJ, Hoover-Fong J. Beck NM, et al. Mol Genet Genomic Med. 2023 Jan;11(1):e2056. doi: 10.1002/mgg3.2056. Epub 2022 Nov 28. Mol Genet Genomic Med. 2023. PMID: 36444396 Free PMC article.
33 results