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Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing 通过CRISPR介导的表观基因组编辑激活印记的普拉德-威利综合征位点 Rohm, Dahlia; Black, Joshua B.; Mccutcheon, Sean R.; Barrera, Alejandro; Berry, Shante S.; Morone, Daniel J.; Nuttle, Xander; de Esch, Celine E.; Tai, Derek J. C.; Talkowski, Michael E.; Iglesias, Nahid; Gersbach, Charles A. 分享 收藏
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) 苯丙氨酸羟化酶缺乏症的诊断与管理：美国医学遗传学与基因组学学院（ACMG）2023年循证临床指南 Smith, Wendy E.; Berry, Susan A.; Bloom, Kaitlyn; Brown, Christine; Burton, Barbara K.; Demarest, Olivia M.; Jenkins, Gabrielle P.; Malinowski, Jennifer; Mcbride, Kim L.; Mroczkowski, H. Joel; Scharfe, Curt; Vockley, Jerry 分享 收藏
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IT translates: An update on the ARCT-810 mRNA therapy for OTC deficiency McNutt, Markey; Vockley, Jerry; Zori, Roberto; Basel, Donald; Breilyn, Margo; Longo, Nicola; Sutton, Vernon; Berry, Susan; Chivukula, Pad; Crowley, Constance; Geller, David 分享 收藏
An ancient polymorphic regulatory region within the BDNF gene associated with obesity modulates anxiety-like behaviour in mice and humans McEwan, Andrew R.; Hing, Benjamin; Erickson, Johanna C.; Hutchings, Greg; Urama, Charity; Norton-Hughes, Emily; D'Ippolito, Mariam; Berry, Susan; Delibegovic, Mirela; Grassmann, Felix; MacKenzie, Alasdair 分享 收藏
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Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders Longo, Nicola; Diaz, George A.; Lichter-Konecki, Uta; Schulze, Andreas; Inbar-Feigenberg, Michal; Conway, Robert L.; Bannick, Allison A.; McCandless, Shawn E.; Zori, Roberto; Hainline, Bryan; Mew, Nicholas Ah; Canavan, Colleen; Vescio, Thomas; Kok, Teresa; Porter, Marty H.; Berry, Susan A. 分享 收藏
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Health Care Supervision for Children With Williams Syndrome Morris, Colleen A.; Braddock, Stephen R.; Chen, Emily; Trotter, Tracy L.; Berry, Susan A.; Burke, Leah W.; Geleske, Timothy A.; Hamid, Rizwan; Hopkin, Robert J.; Introne, Wendy J.; Lyons, Michael J.; Scheuerle, Angela E.; Stoler, Joan M. 分享 收藏
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Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines 改进基因组医学的建议: 建立从临床实践咨询文件到指南的进化过程 Burke, Wylie; Clayton, Ellen Wright; Wolf, Susan M.; Berry, Susan A.; Evans, Barbara J.; Evans, James P.; Hall, Ralph; Korngiebel, Diane; Laberge, Anne-Marie; LeRoy, Bonnie S.; McGuire, Amy L. 分享 收藏
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature Torti, Erin; Keren, Boris; Palmer, Elizabeth E.; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J.; Andrews, Marisa, V; Atkinson, Celia; Au, Margaret; Berry, Susan A.; Bowling, Kevin M.; Boyle, Jackie; Buratti, Julien; Cathey, Sara S.; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F.; Finley, Sabra Ledare; Graham, John M., Jr.; Grange, Dorothy K.; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M.; Hibbs, Kathleen A.; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R.; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G. Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A.; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G.; Person, Richard E.; Willaert, Rebecca; Solomon, Benjamin D.; Juusola, Jane 分享 收藏
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients Diaz, George A.; Schulze, Andreas; Longo, Nicola; Rhead, William; Feigenbaum, Annette; Wong, Derek; Merritt, J. Lawrence, II; Berquist, William; Gallagher, Renata C.; Bartholome, Dennis; McCandless, Shawn E.; Smith, Wendy E.; Harding, Cary O.; Zori, Roberto; Lichter-Konecki, Uta; Vockley, Jerry; Canavan, Colleen; Vescio, Thomas; Holt, Robert J.; Berry, Susan A. 分享 收藏
Comparative genomics and genome biology of Campylobacter showae 弯曲杆菌的比较基因组学和基因组生物学 Hsu, Tiffany; Gemmell, Matthew R.; Franzosa, Eric A.; Berry, Susan; Mukhopadhya, Indrani; Hansen, Richard; Michaud, Monia; Nielsen, Hans; Miller, William G.; Nielsen, Henrik; Bajaj-Elliott, Mona; Huttenhower, Curtis; Garrett, Wendy S.; Hold, Georgina L. 分享 收藏
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