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Recent Progress in the Identification of the X-Linked Infantile Spinal Muscular Atrophy (Xl-SMA) Gene: Implications for Neuronal Apoptosis.
Baumbach LL, Dressman D, Basterrechea H, Ahearn ME, Bech-Hansen NT, Clark RD, Meind A, Hoffman E. Baumbach LL, et al. Among authors: ahearn me. ScientificWorldJournal. 2001 Oct 12;1:33. doi: 10.1100/tsw.2001.23.156. eCollection 2001. ScientificWorldJournal. 2001. PMID: 30147468 Free PMC article. No abstract available.
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
Hunter JM, Ahearn ME, Balak CD, Liang WS, Kurdoglu A, Corneveaux JJ, Russell M, Huentelman MJ, Craig DW, Carpten J, Coons SW, DeMello DE, Hall JG, Bernes SM, Baumbach-Reardon L. Hunter JM, et al. Among authors: ahearn me. Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8. Mol Genet Genomic Med. 2015. PMID: 26247046 Free PMC article.
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome.
Miller TE, Estrella E, Myerburg RJ, Garcia de Viera J, Moreno N, Rusconi P, Ahearn ME, Baumbach L, Kurlansky P, Wolff G, Bishopric NH. Miller TE, et al. Among authors: ahearn me. Circulation. 2004 Jun 22;109(24):3029-34. doi: 10.1161/01.CIR.0000130666.81539.9E. Epub 2004 Jun 7. Circulation. 2004. PMID: 15184283 Review.
Spinal Muscular Atrophy, X-Linked Infantile.
Baumbach-Reardon L, Hunter JM, Ahearn ME, Pfautsch M. Baumbach-Reardon L, et al. Among authors: ahearn me. 2008 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301739 Free Books & Documents. Review.
12 results