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Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK. Stanley KJ, et al. Among authors: martin n. Eur J Hum Genet. 2024 Jul;32(7):795-803. doi: 10.1038/s41431-024-01629-4. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778082 Free PMC article.
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. Among authors: martin n. 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.
Warsaw breakage syndrome: Further clinical and genetic delineation.
Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D. Alkhunaizi E, et al. Among authors: martin n. Am J Med Genet A. 2018 Nov;176(11):2404-2418. doi: 10.1002/ajmg.a.40482. Epub 2018 Sep 14. Am J Med Genet A. 2018. PMID: 30216658 Free PMC article.
5,399 results