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45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Alkhunaizi E, Albrecht JP, Aarabi M, Witchel SF, Wherrett D, Babul-Hirji R, Dupuis A, Chiniara L, Chater-Diehl E, Shago M, Shuman C, Rajkovic A, Yatsenko SA, Chitayat D. Alkhunaizi E, et al. Among authors: shuman c. Am J Med Genet A. 2024 Mar;194(3):e63451. doi: 10.1002/ajmg.a.63451. Epub 2023 Oct 26. Am J Med Genet A. 2024. PMID: 37882230
Beckwith-Wiedemann Syndrome.
Shuman C, Kalish JM, Weksberg R. Shuman C, et al. 2000 Mar 3 [updated 2023 Sep 21]. 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. 2000 Mar 3 [updated 2023 Sep 21]. 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: 20301568 Free Books & Documents. Review.
Development of a storytelling communication facilitation tool (SCFT) to facilitate discussion of complex genetic diagnoses between parents and their children: A pilot study using 22q11.2 deletion syndrome as a model condition.
Bogatan S, Shugar A, Wasim S, Ball S, Schmidt C, Chitayat D, Shuman C, Cytrynbaum C. Bogatan S, et al. Among authors: shuman c. PEC Innov. 2022 Dec 6;2:100115. doi: 10.1016/j.pecinn.2022.100115. eCollection 2023 Dec. PEC Innov. 2022. PMID: 37214507 Free PMC article.
246 results