日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Revealing sex-specific changes across protein structure in the aging bone extracellular matrix

揭示衰老骨细胞外基质中蛋白质结构的性别特异性变化

Tudor, Jacob; Eckersley, Alexander; Buckley, Michael

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability

GTF3C3基因的双等位基因变异会导致一种常染色体隐性遗传疾病,并伴有智力障碍。

De Hayr, Lachlan; Blok, Laura E R; Dias, Kerith-Rae; Long, Jingyi; Begemann, Anaïs; Moir, Robyn D; Willis, Ian M; Mocera, Martina; Siegel, Gabriele; Steindl, Katharina; Evans, Carey-Anne; Zhu, Ying; Zhang, Futao; Field, Michael; Ma, Alan; Adès, Lesley; Josephi-Taylor, Sarah; Pfundt, Rolph; Zaki, Maha S; Tomoum, Hoda; Gregor, Anne; Laube, Julia; Reis, André; Maddirevula, Sateesh; Hashem, Mais O; Zweier, Markus; Alkuraya, Fowzan S; Maroofian, Reza; Buckley, Michael F; Gleeson, Joseph G; Zweier, Christiane; Coll-Tané, Mireia; Koolen, David A; Rauch, Anita; Roscioli, Tony; Schenck, Annette; Harvey, Robert J

Quantifying Bone Collagen Fingerprint Variation Between Species

量化物种间骨胶原蛋白指纹图谱的差异

Baker, Andrew; Buckley, Michael

Collagen fingerprinting and sequence analysis provides a molecular phylogeny of extinct Australian megafauna

胶原蛋白指纹图谱和序列分析提供了已灭绝澳大利亚巨型动物的分子系统发育关系。

Buckley, Michael; Mitchell, Kieren J; Arnold, Lee J; Reed, Elizabeth H; Eberhard, Rolan

Evaluating the Impact of Electronic Health Record to Electronic Data Capture Technology on Workflow Efficiency: a Site Perspective

评估电子健康记录到电子数据采集技术对工作流程效率的影响:一个站点的视角

Patruno, Anna; Panzarella, Michael-Owen; Buckley, Michael; Silverman, Milena; Salazar, Evelyn; Panchal, Renata; Lengfellner, Joseph; Iasonos, Alexia; Garza, Maryam; Choi, Byeong Yeob; Zozus, Meredith; Terzulli, Stephanie; Sabbatini, Paul

Promoting Sleep for Neurology Inpatients: The Value of Routine Overnight Vital Signs

促进神经内科住院患者睡眠:夜间常规生命体征监测的价值

Ellis, Colin A; Liu, Patrick Z; Napole, Alan; Denison, Lydia; Shaik, Noor F; Venezia, Grace Anya; Ljungberg, Lovisa; Karamardian, Michael A; Peachey, Colleen; Buckley, Michael; Bae, Charles J; Stein, Laura; Xu, Denise J

Long-range PCR and Nanopore sequencing for localisation and phasing variants: an end-to-end clinical application workflow

利用长片段PCR和纳米孔测序进行变异定位和相位鉴定:端到端的临床应用工作流程

Jamshidi, Javad; Rowntree, Conor; Fadaee, Shannon; Zhang, Futao; Zhu, Ying; Buckley, Michael; Hart, Franki; Roscioli, Tony

The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia-A Commentary

PreGen研究项目:在澳大利亚实施产前基因组检测——评述

Long, Sarah; Schofield, Deborah; Kraindler, Josh; Vink, Rebecca; Ross, Kate; Hart, Natalie; Evans, Holly; Wilson, Alyssa; Hyett, Jon; Wakefield, Claire E; Kelada, Lauren; Scott, Hamish; Lunke, Sebastian; Wall, Meaghan; Buckley, Michael F; Fernihough, Gemma; McGillivray, George; Roscioli, Tony