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A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Int J Mol Sci. 2022 Dec 28;24(1):494. doi: 10.3390/ijms24010494.
Int J Mol Sci. 2022.
PMID: 36613932
Free PMC article.
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.
Meinel JA, Yumiceba V, Künstner A, Schultz K, Kruse N, Kaiser FJ, Holterhus PM, Claviez A, Hiort O, Busch H, Spielmann M, Werner R.
Meinel JA, et al.
J Med Genet. 2023 May;60(5):469-476. doi: 10.1136/jmg-2022-108635. Epub 2022 Sep 9.
J Med Genet. 2023.
PMID: 36227713
Free PMC article.
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Reduction of half-scan shading artifact based on full-scan correction.
Meinel JA, Hoffman E, Clough A, Wang G.
Meinel JA, et al.
Acad Radiol. 2006 Jan;13(1):55-62. doi: 10.1016/j.acra.2005.08.007.
Acad Radiol. 2006.
PMID: 16399032
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