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Parental Decision-Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

唐氏综合症产前诊断后的家长决策：系统性综述

Inger Lily Hjuler Dorf,Stina Lou,Anne Skakkebæk

American journal of medical genetics. Part C, Seminars in medical genetics. 2025 Apr 8:e32140. DOI:10.1002/ajmg.c.32140

Repurposing With Purpose: Treatment of Bachmann-Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

以目的为导向的药物新用：左卡巴斯汀治疗Bachmann-Bupp综合征及其对其他多胺病的启示

Caleb P Bupp,Elizabeth A VanSickle,Julianne Michael et al.

American journal of medical genetics. Part C, Seminars in medical genetics. 2025 Apr 1:e32138. DOI:10.1002/ajmg.c.32138

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

特纳综合症心血管健康问题的管理：来自2024年指南开发团队的专业见解和扩展建议

Katya de Groote,Sheetal R Patel,Kristian Havmand Mortensen et al.

American journal of medical genetics. Part C, Seminars in medical genetics. 2025 Mar 26:e32139. DOI:10.1002/ajmg.c.32139

In Utero Therapies, the Next Frontier

子宫内治疗，下一个前沿领域

Teodora R Kolarova,Edith Cheng

American journal of medical genetics. Part C, Seminars in medical genetics. 2025 Mar 24:e32135. DOI:10.1002/ajmg.c.32135

Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews

基因评论中当前可用于先天性遗传疾病的靶向治疗的评估

Nathan B Adam,Anne R Amemiya,Stephanie E Wallace et al.

American journal of medical genetics. Part C, Seminars in medical genetics. 2025 Mar 18:e32137. DOI:10.1002/ajmg.c.32137

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