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排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
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Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency
Monika Williams, Iskren Menkovic, Pamela Reitnauer, Eileen Gilbert,Dwight Koeberl,Sarah P. Young,Ashlee R. Stiles
MOLECULAR GENETICS AND METABOLISM REPORTS (2024): 101062-101062
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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
Jennifer Goldstein, Amanda Thomas-Wilson,Emily Groopman,Vimla Aggarwal,Simona Bianconi, Raquel Fernandez, Kim Hart,Nicola Longo, Nicole Liang, Daniel Reich, Heidi Wallis, Meredith Weaver,
Molecular Genetics and Metabolismno. 1 (2024): 108362-108362
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P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
Emily Groopman, Jenny Goldstein,Amanda Thomas-Wilson, Daniel Reich, Emily Kyle,Vimla Aggarwal, Christine Preston, Kim Hart, Nicole Si Yan Liang,Sarah Young, Simona Bianconi,Nicola Longo,
Genetics in Medicine Open (2024): 100879
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Triheptanoin for patients with glycogen storage disease type i (gsdi): pilot clinical trial results
Areeg El-Gharbawy, Joseph Cao,Surekha Pendyal, Cindy Li, Lauren Workman,Alisha Mavis,Ashlee Stiles,Sarah Young
Molecular Genetics and Metabolismno. 3 (2023): 107409-107409
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