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

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals

澳大利亚医院新生儿脊髓性肌萎缩症筛查的成本效益分析

Woodcock, Ian R; Kariyawasam, Didu S; Kava, Maina P; Yiu, Eppie M; Clark, Damian; Adams, Jane; Bischof, Matthias; Peacock, Adrian; Taylor, Colman; Smith, Nicholas J C

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

3-甲基戊二酰辅酶A水合酶缺乏症:当诊断偏倚干扰生化诊断时

Hertzog, Ashley; Selvanathan, Arthavan; Pandithan, Dinusha; Kim, Won-Tae; Kava, Maina P; Boneh, Avihu; Coman, David; Tolun, Adviye Ayper; Bhattacharya, Kaustuv

Transcatheter and surgical aortic valve replacement in patients with left ventricular dysfunction

左心室功能障碍患者的经导管和外科主动脉瓣置换术

Jalava, Maina P; Savontaus, Mikko; Ahvenvaara, Tuomas; Laakso, Teemu; Virtanen, Marko; Niemelä, Matti; Tauriainen, Tuomas; Maaranen, Pasi; Husso, Annastiina; Kinnunen, Eve; Dahlbacka, Sebastian; Jaakkola, Jussi; Rosato, Stefano; D'Errigo, Paola; Laine, Mika; Mäkikallio, Timo; Raivio, Peter; Eskola, Markku; Valtola, Antti; Juvonen, Tatu; Biancari, Fausto; Airaksinen, Juhani; Anttila, Vesa

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

血液基因组测序在诊断线粒体疾病中的应用

Rocio Rius, Alison G Compton, Naomi L Baker, AnneMarie E Welch, David Coman, Maina P Kava, Andre E Minoche, Mark J Cowley, David R Thorburn, John Christodoulou

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

SATB2相关综合征的癫痫和脑电图异常

Lewis, Hannah; Samanta, Debopam; Örsell, Jenny-Li; Bosanko, Katherine A; Rowell, Amy; Jones, Melissa; Dale, Russell C; Taravath, Sasidharan; Hahn, Cecil D; Krishnakumar, Deepa; Chagnon, Sarah; Keller, Stephanie; Hagebeuk, Eveline; Pathak, Sheel; Bebin, E Martina; Arndt, Daniel H; Alexander, John J; Mainali, Gayatra; Coppola, Giangennaro; Maclean, Jane; Sparagana, Steven; McNamara, Nancy; Smith, Douglas M; Raggio, Víctor; Cruz, Marcos; Fernández-Jaén, Alberto; Kava, Maina P; Emrick, Lisa; Fish, Jennifer L; Vanderver, Adeline; Helman, Guy; Pierson, Tyler M; Zarate, Yuri A

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

早期限制赖氨酸饮食作为吡哆醇治疗的辅助手段,对一名因抗赖氨酸缺乏症而患有吡哆醇依赖性癫痫的儿童取得了有益效果。

Kava, Maina P; Bryant, Leah; Rowe, Peter; Lewis, Barry; Greed, Lawrence; Balasubramaniam, Shanti

Mid-term outcomes of Sapien 3 versus Perimount Magna Ease for treatment of severe aortic stenosis

Sapien 3 与 Perimount Magna Ease 治疗重度主动脉瓣狭窄的中期疗效比较

Virtanen, Marko P O; Eskola, Markku; Savontaus, Mikko; Juvonen, Tatu; Niemelä, Matti; Laakso, Teemu; Husso, Annastiina; Jalava, Maina P; Tauriainen, Tuomas; Ahvenvaara, Tuomas; Maaranen, Pasi; Kinnunen, Eeva-Maija; Dahlbacka, Sebastian; Laine, Mika; Mäkikallio, Timo; Valtola, Antti; Raivio, Peter; Rosato, Stefano; D'Errigo, Paola; Vento, Antti; Airaksinen, Juhani; Biancari, Fausto

Impact of Major Vascular Complication Access Site Status on Mortality After Transfemoral Transcatheter Aortic Valve Replacement - Results From the FinnValve Registry

主要血管并发症入路部位状态对经股动脉导管主动脉瓣置换术后死亡率的影响——来自 FinnValve 注册研究的结果

Laakso, Teemu; Moriyama, Noriaki; Raivio, Peter; Dahlbacka, Sebastian; Kinnunen, Eeva-Maija; Juvonen, Tatu; Valtola, Antti; Husso, Annastiina; Jalava, Maina P; Ahvenvaara, Tuomas; Tauriainen, Tuomas; Piuhola, Jarkko; Lahtinen, Asta; Niemelä, Matti; Mäkikallio, Timo; Virtanen, Marko; Maaranen, Pasi; Eskola, Markku; Savontaus, Mikko; Airaksinen, Juhani; Biancari, Fausto; Laine, Mika

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

双等位基因致病性 PNPT1 变异相关的临床表现和功能后果

Rocio Rius, Nicole J Van Bergen, Alison G Compton, Lisa G Riley, Maina P Kava, Shanti Balasubramaniam, David J Amor, Miriam Fanjul-Fernandez, Mark J Cowley, Michael C Fahey, Mary K Koenig, Gregory M Enns, Simon Sadedin, Meredith J Wilson, Tiong Y Tan, David R Thorburn, John Christodoulou

Ten-year experience with transcatheter and surgical aortic valve replacement in Finland

芬兰经导管和外科主动脉瓣置换术十年经验

Mäkikallio, Timo; Jalava, Maina P; Husso, Annastiina; Virtanen, Marko; Laakso, Teemu; Ahvenvaara, Tuomas; Tauriainen, Tuomas; Maaranen, Pasi; Kinnunen, Eeva-Maija; Dahlbacka, Sebastian; Jaakkola, Jussi; Airaksinen, Juhani; Anttila, Vesa; Savontaus, Mikko; Laine, Mika; Juvonen, Tatu; Valtola, Antti; Raivio, Peter; Eskola, Markku; Niemelä, Matti; Biancari, Fausto