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

Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand

澳大利亚和新西兰范可尼贫血的临床和遗传谱

Fluhler, Hannah; Granger, Elissah; Sharp, Michael; Harris, Caitlin; McKinley, Mark; Riyat, Sarbjit; Krieg, Christine; Deans, Andrew; Fraser, Chris; Cross, Siobhan; Carter, Tina; Worgan, Lisa; Nelson, Adam; Fox, Lucy C; Nicholl, Jillian; Attwood, Alison; McLeman, Lorna; Hughes, David; Conyers, Rachel; Kujan, Omar; Velleuer-Carlberg, Eunike; Nandini, Adayapalam; Crismani, Wayne

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

揭示MECOM相关综合征的各个方面:体细胞基因拯救、克隆性造血和表型扩展

Venugopal, Parvathy; Arts, Peer; Fox, Lucy C; Simons, Annet; Hiwase, Devendra K; Bardy, Peter G; Swift, Annette; Ross, David M; van Vulpen, Lize F D; Buijs, Arjan; Bolton, Kelly L; Getta, Bartlomiej; Furlong, Eliska; Carter, Tina; Krapels, Ingrid; Hoeks, Marlijn; Al Kindy, Adila; Al Kindy, Farah; de Munnik, Sonja; Evans, Pamela; Frank, Mahalia S B; Bournazos, Adam M; Cooper, Sandra T; Ha, Thuong Thi; Jackson, Matilda R; Arriola-Martinez, Luis; Phillips, Kerry; Brennan, Yvonne; Bakshi, Madhura; Ambler, Karen; Gao, Song; Kassahn, Karin S; Kenyon, Rosalie; Hung, Kevin; Babic, Milena; McGovern, Alan; Rawlings, Lesley; Vakulin, Cassandra; Dejong, Lucas; Fathi, Rema; McRae, Simon; Myles, Nicholas; Ladon, Dariusz; Jongmans, Marjolijn; Kuiper, Roland P; Poplawski, Nicola K; Barbaro, Pasquale; Blombery, Piers; Brown, Anna L; Hahn, Christopher N; Scott, Hamish S

Development of a Miniaturized Mechanoacoustic Sensor for Continuous, Objective Cough Detection, Characterization and Physiologic Monitoring in Children With Cystic Fibrosis

开发一种微型机械声学传感器,用于对囊性纤维化患儿进行连续、客观的咳嗽检测、表征和生理监测

Tzavelis, Andreas; Palla, John; Mathur, Radhika; Bedford, Brittany; Wu, Yung-Hsuan; Trueb, Jacob; Shin, Hee Sup; Arafa, Hany; Jeong, Hyoyoung; Ouyang, Wei; Kwak, Jay Young; Chiang, Jennifer; Schulz, Sydney; Carter, Tina M; Rangaraj, Vittobai; Katsaggelos, Aggelos K; McColley, Susanna A; Rogers, John A

Incidence of NUT carcinoma in Western Australia from 1989 to 2014: a review of pediatric and adolescent cases from Perth Children's Hospital

1989年至2014年西澳大利亚州NUT癌发病率:珀斯儿童医院儿科和青少年病例回顾

Carter, Tina; Crook, Maxine; Murch, Ashleigh; Beesley, Alex H; de Klerk, Nick; Charles, Adrian; Kees, Ursula R

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

四种遗传综合征与先天性角化不良症有明显的重叠,这给临床诊断带来了困难

Walne Amanda J, Collopy Laura, Cardoso Shirleny, Ellison Alicia, Plagnol Vincent, Albayrak Canan, Albayrak Davut, Kilic Sara Sebnem, Patıroglu Turkan, Akar Haluk, Godfrey Keith, Carter Tina, Marafie Makia, Vora Ajay, Sundin Mikael, Vulliamy Thomas, Tummala Hemanth, Dokal Inderjeet