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

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation

丁酸盐可改变与染色质失调相关的神经发育障碍患儿外周血单核细胞的表观遗传和免疫通路。

Hayes, Jessica P; Han, Velda X; Keating, Brooke A; Nishida, Hiroya; Tsang, Erica; Lau, Xianzhong; Dissanayake, Ruwani; Aryamanesh, Nader; Gold, Wendy; Wong, Melanie; Ellaway, Carolyn; Gloss, Brian S; Mohammad, Shekeeb S; Hofer, Markus J; Valtchev, Peter; Patel, Shrujna; Dale, Russell C

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease

羟钴胺素治疗早期发作型钴胺素C病患者的临床结果及其与生化控制的相关性

Selvanathan, Arthavan; Hertzog, Ashley; Russell, Jacqui; Junek, Rosie; Ellaway, Carolyn; Lichkus, Kate; Tolun, Adviye Ayper; Bhattacharya, Kaustuv

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation

新型PCDH12致病性错义变异导致神经发育障碍和眼部畸形

Rakotomamonjy, Jennifer; Fares-Taie, Lucas; Kumar, Raman; Gebert, Cole; Magaña-Hernandez, Laura; Blaszkiewicz, Anna; Benson, Theresa; Fairbanks-Santana, Martín; Trejo, Angela; Rogers, R Curtis; Mayer, Claudine; Chennen, Kirsley; Poch, Olivier; Bardakjian, Tanya M; Tropea, Thomas F; Gonzalez-Alegre, Pedro; Carvill, Gemma L; Zhang, Jamie; Agarwala, Shreya; Jolly, Lachlan A; Van Bergen, Nicole J; Balasubramaniam, Shanti; Ellaway, Carolyn J; Christodoulou, John; Gecz, Jozef; Rozet, Jean-Michel; Guemez-Gamboa, Alicia

An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening

一项关于遗传咨询师在新生儿血斑筛查呈阳性后对接受诊断的父母所起作用的探索性定性研究

Sandelowsky, Samantha A; McEwen, Alison; Russell, Jacqui; Boggs, Kirsten; Junek, Rosie; Ellaway, Carolyn; Selvanathan, Arthavan; Farrar, Michelle A; Bhattacharya, Kaustuv

Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome.

评估生长分化因子 15 和成纤维细胞生长因子 21 作为 Rett 综合征血液生物标志物的效用。

Hertzog Ashley, Tolun Adviye Ayper, Wykes Alexander D, Brown David, Breit Samuel N, Ellaway Carolyn, Ho Gladys, Gold Wendy

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

CHD8 变异与雷特综合征:表型重叠、分子趋同和遗传谱的扩展

Zhang Elaine, Zhao Teresa, Sikora Tim, Ellaway Carolyn, Gold Wendy A, Van Bergen Nicole J, Stroud David A, Christodoulou John, Kaur Simranpreet

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

MPS IVA 成人患者接受 elosulfase alfa 酶替代疗法的长期疗效:Morquio A 注册研究 (MARS) 的亚组分析

Stepien, Karolina M; Burton, Barbara K; Bober, Michael B; Campeau, Philippe M; Ellaway, Carolyn; Bhattacharya, Kaustuv; Guffon, Nathalie; Hinds, David; Hunt, Abigail; Lail, Alice; Lin, Shuan-Pei; Magner, Martin; Murphy, Elaine; Reisewitz, Pascal; Mitchell, John J

OP43 Translating Cell And Gene Therapy HTA Into Practice – Building The Plane As We Fly It

OP43 将细胞和基因疗法卫生技术评估转化为实践——边飞边造飞机

Anderson, Oliver; Boshier, Piers R; Hanna, George B; Samonte, Sheena Jasley; Liban, Lara Alyssa; Mondala, Princess Allyza; Angeles, Jason Oliver; Cabus, Russell; Reyes, Patrick Wincy; Marfori, Anne Julienne; Guerrero, Anna Melissa; Ooi, Lydia; See-Toh, Rachel; Soon, Swee Sung; Ju, Hong; Ng, Kwong; Arora, Rhythm; Gonzalez, Ignacio Garcia; Delaitre-Bonnin, Caroline; Sander, Beate; Krahn, Murray; Bryan, Stirling; Brouwer, Werner; Jit, Mark; Lee, Karen; Naus, Monika; Ozawa, Sachiko; Prosser, Lisa; Lathia, Nina; Yeung, Man Wah; Nam, Austin; Tuite, Ashleigh; House, Althea; Tunis, Matthew; van Haasteren, Goedele; Finlayson, Mark; Currie, Gillian; Gerber, Brittany; Lorenzetti, Diane; MacDonald, Karen; Bohach, Riley Jewel; Marshall, Deborah; Von Huben, Amy; Howell, Martin; Norris, Sarah; Howard, Kirsten; Gousset, Veronica Lopez; Silva, Aline Silveira; Holtorf, Anke-Peggy; Toledo-Chávarri, Ana; Single, Ann; Wang, Tina; Solar, Belen; McAuslane, Neil; Nicholls, Kathleen; Denaro, Charles; Tchan, Michel; Ellaway, Carolyn; Bratkovic, Drago; Palmer, Hazel; Campbell, Sheridan; Fookes, Megan; Thomas, Mark; Batcagan-Abueg, Ada PM; Soon, Swee Sung; Ju, Hong; Ng, Kwong; Samonte, Sheena Jasley; Mondala, Princess Allyza; Liban, Lara Alyssa; Reyes, Patrick Wincy; Marfori, Anne Julienne; Guerrero, Anna Melissa; Castro, Bu; Sia, Isidro; Calimag, Maria Minerva; Maramba-Lazarte, Cecilia; Peña, Imelda; Kelles, Silvana; Pereira, Camila; Martins, Carina; Reis, Daniel; Azevedo, Ernesto; Ribeiro, Geraldo; Zocrato, Karina; Carvalho, Lélia; Freitas, Marcela; Horta, Maria; Barbosa, Mariana; Talim, Mariza; Borin, Marcus; Fennessy, Paul; Avdeyev, Andrey; Saduakassova, Aigul; Tleulessova, Indira; Akhmedullin, Ruslan; Lyugay, Ekaterina; Fet, Maхim; Albayev, Rustam; Benberin, Valeriy; Shanazarov, Nasrulla; Okesh, Makhabbat; Aimanova, Tansolpan; Akhmetova, Makpal; Bariyeva, Gulzada; Turar, Olzhas; Ryan, James; Marshall, Deborah A; de Bekker-Grob, Esther W; Hauber, Brett; Heidenreich, Sebastian; Janssen, Ellen; Bast, Alice; Hanmer, Janel; Johnson, Laura Lee; Danyliv, Andriy; Low, Eric; Bouvy, Jacoline C; Bridges, John F P; Stringer, Danielle; Ma, Ning; Tivey, David; Gomez-Salgado, Patricia; Triñanes, Yolanda; Casal-Acción, Beatriz; Faraldo-Vallés, María José; Reyes, Patrick Wincy; Liban, Lara Alyssa; Victoria Arellano, Ma Cecilia; Santillan, Joshua; Samonte, Sheena Jasley; Marfori, Anne Julienne; Guerrero, Anna Melissa; delos Santos, Marc James; Lee-Ramos, Catherine Manuela; Peralta, Agnette; Franklin, Matthew; Hinde, Sebastian; Hunter, Rachael; Richardson, Gerry; Whittaker, William; Kwon, Soontack; Han, Seung Jin; Kim, Kyung-Hoon; Triñanes, Yolanda; Gómez, Patricia; Faraldo-Vallés, María J; Pérez-Ríos, Mónica; Ruano-Raviña, Alberto; lema, Leonor Varela; Schubert, Camille; Goodall, Stephen; Merlin, Tracy; Mohamad, Nur Farhana; Mansor, Zawiah; Mahmud, Aidalina; Ismail, Suriani; Mohamed Ghazali, Izzuna Mudla; Sarimin, Roza; Gargano, Ludmila; Freitas, Isabela; Henriques, Luila; André, Ariane; Álvares-Teodoro, Juliana; Acurcio, Francisco; Guerra, Augusto Jr; Fitzgerald, Anita; Fevre, James Le; Morgan, Gina; Streat, Stephen; Munn, Stephen; Shawon, Shajedur Rahman; Sotade, Oluwadamisola; Hill, Michelle; Strachan, Liesl; Challis, Gabrielle; King, Kate; Jorm, Louisa; Ade, Apolline; Hallas, Natalie; Vancauwenberghe, Lydie; Vogt-Humberg, Ilona; Holm, Astrid; Lundsby, Mette; Borgman, Benny; Pellicer, Beatriz; Borghetti, Francesca; Strachan, Liesl; Segur-Ferrer, Joan; Moltó-Puigmartí, Carolina; Pastells-Peiró, Roland; Vivanco-Hidalgo, Rosa Maria; Singh, Janharpreet; Stevenson, Matt; Hyrich, Kimme; Gillies, Clare; Abrams, Keith; Bujkiewicz, Sylwia; Henderson, Nadine; Brassel, Simon; Oliver, Edward; Gibbons, Ilana; Allen, Rachel; Largeron, Nathalie; Garau, Martina; Rasburn, Mark; Crosbie, Helen; Marsden, Laura; Ritz, Christian; Kim, Hansoo; Richardson, Marina; Miller, Fiona; Daneman, Nick; Mighton, Chloe; Sander, Beate; Zschocke, Juergen; Alonzo, Carolina; Ding, Ding; Poon, Jiat-Ling; Vonarx, Lillbrith; Avitabile, Arianna; Myrick, Shane; Hill, Jennifer; Molero, Alberto; Perez, Nancy; Delbecque, Laure; Husereau, Don; Claxton, Karl; Rhainds, Marc; Mbemba, Gisèle; Roche, Daniel La; Gagnon, Marie-Pierre; Pretorius, Lauren; Mueller, Debjani; Holtorf, Anke Peggy; Zhang, Enti; Annoni, Elena; Strachan, Liesl; Joglekar, Rashmi; Strachan, Liesl; Vines, Richard; Warkentin, Lindsey; Tjosvold, Lisa; Bond, Ken; Dominguez, Josune; López-Argumedo, Marta; Carmona-Hidalgo, Beatriz; Gaasterland, Charlotte; Klein, Mirthe; Blasco, Juan Antonio; Watson, Jo; Wortley, Sally; Piotto, Estelle; Fouteau, Emmanuelle; Marguerite, Camille; Galmiche, Hubert; Adenot, Isabelle; Liu, Shimeng; Xia, Yu; Yang, Yi; Ming, Jian; Sun, Hui; Wei, Yan; Chen, Yingyao; Gillespie, John; Davies, Paul; Souza, Andrea Brigida; Prates, Adriana; Almeida, Andrija; Portugal, Clarice; Losco, Luiza; Fonseca, Mariana; Barros, Melina; Canuto, Vania; Mestre-Lleixà, Berta; Llinàs-Mallol, Laura; Gallastegui-Calvache, Edurne; Ramos-Masdeu, Laia; Ruiz-Baena, Jessica; Vivanco-Hidalgo, Rosa Maria; Faraldo-Valles, Maria-Jose; Maceira-Rozas, Maria-Carmen; Casal-Acción, Beatriz; Gomez, Patricia; Trinanes, Yolanda; Sabalete, Trinidad; Blasco, Juan Antonio; Engelhard, Ruth; Gracia, Javier; Best, Alex; Lim, KyungHwa; Adam, Aisha; Taurel, Anne-Frieda; Feng, Jun; Nunn, Jack; Mason, Gillian; Marshall, Deborah A; MacDonald, Karen V; Stein, Barry; Hodgson, Amanda; Masterson, Daniele; Ferreira, T P; Laguardia, Josué; da Silva, Cicera Henrique; Martinez Silveira, Martha Silvia; McGowan, Jessie; Rabb, Danielle; Best, Alex; Tsai, I-Ching; Tan, Jin Yu; Wu, David bin-chia; Yu, DaeYoung; Keetley, Alison; Wong-Rieger, Durhane; Jain, Ritu; Borges, Stefani; Rodrigues, Fernanda; Pires, Wolney; da Costa, Nathalia; Louly, Priscila; Prado, Clementina; Santos, Vania; Hill, Michelle; Gordois, Adam; Ng, Alvin; Choi, Min Hee; Evans, Jennifer S; da Costa, Nathalia; Borges, Stefani; Pires, Wolney; Rodrigues, Fernanda; Louly, Priscila; Prado, Clementina; Santos, Vania; Watson, Ian; Dilkes, Jenna; Ellison-Roberts, Geoff; Prescott, Jenniffer; Borges, Stefani; Rodrigues, Fernanda; Pires, Wolney; da Costa, Nathalia; Maldonado, Thatiara; Louly, Priscila; Prado, Clementina; Santos, Vania; Tomaiuolo, Rossella; Resta, Chiara Di; Derrico, Pietro; Ritrovato, Matteo; Banfi, Giuseppe; Low, Eunice; André-Vert, Joëlle; Guerrier, Marc; Fanelli, Gaëlle; Galbraith, Margaret; Ragusa, Rosalia; Guardabasso, Vincenzo; Bellia, Maria Alessandra; Piana, Filippo; Quattrocchi, Rosalba; Azzeri, Amirah; Jaafar, Mohd Hafiz; Dahlui, Maznah; Mechili, Enkeleint A; Petelos, Elena; Bucaj, Jorgjia; Gallos, Parisis; Fennessy, Paul; Ferrie, Monica

Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience

雷特综合征的多学科管理:二十年经验

Vilvarajan, Sandra; McDonald, Madeleine; Douglas, Lyndal; Newham, Jessica; Kirkland, Robyn; Tzannes, Gloria; Tay, Diane; Christodoulou, John; Thompson, Susan; Ellaway, Carolyn

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales

新南威尔士州麦卡德尔综合征(GSD V)患儿的诊断和治疗

Adams, Louisa; Selvanathan, Arthavan; Batten, Kiera J; van Doorn, Nancy; Thompson, Susan; Mitchell, Ashleigh; Sampaio, Hugo; Dalkeith, Troy; Russell, Jacqui; Ellaway, Carolyn J; Farrar, Michelle; Broderick, Carolyn; Bhattacharya, Kaustuv