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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Additional risk stratification in women with a history of spontaneous preterm birth and a midtrimester cervical length > 25 millimeters

对有自发性早产史且妊娠中期宫颈长度>25毫米的女性进行额外的风险分层

van Limburg Stirum, Emilie V J; Breuking, Sofie H; van Dijk, Charlotte E; van 't Hooft, Janneke; Kazemier, Brenda M; de Ruigh, Annemijn A; Oudijk, Martijn A; Pajkrt, Eva; de Boer, Marjon A

Long-term child outcomes after prenatal aspirin exposure: A 4-year follow-up of a randomized controlled trial (the APRIL study)

产前服用阿司匹林对儿童长期影响:一项随机对照试验的 4 年随访(APRIL 研究)

van Limburg Stirum, Emilie V J; van 't Hooft, Janneke; Landman, Anadeijda J E M C; Finken, Martijn J J; Ravelli, Anita C J; Leemhuis, Aleid G; Pajkrt, Eva; Oudijk, Martijn A; de Boer, Marjon A

Accelerometry-defined physical activity and quality of life in hypertrophic cardiomyopathy

肥厚型心肌病患者通过加速度计定义的身体活动和生活质量

Schoonvelde, Stephan A C; Zwetsloot, Peter-Paul; Hirsch, Alexander; Schinkel, Arend F L; Knackstedt, Christian; Germans, Tjeerd; van Slegtenhorst, Marjon A; Verhagen, Judith M A; de Boer, Rudolf A; Michels, Michelle

Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings

在一般人群和不同临床环境中评估肥厚型心肌病的多基因评分

Zheng, Sean L; Jurgens, Sean J; McGurk, Kathryn A; Xu, Xiao; Grace, Chris; Theotokis, Pantazis I; Buchan, Rachel J; Francis, Catherine; de Marvao, Antonio; Curran, Lara; Bai, Wenjia; Pua, Chee Jian; Tang, Hak Chiaw; Jorda, Paloma; van Slegtenhorst, Marjon A; Verhagen, Judith M A; Harper, Andrew R; Ormondroyd, Elizabeth; Chin, Calvin W L; Pantazis, Antonis; Baksi, John; Halliday, Brian P; Matthews, Paul; Pinto, Yigal M; Walsh, Roddy; Amin, Ahmad S; Wilde, Arthur A M; Cook, Stuart A; Prasad, Sanjay K; Barton, Paul J R; O'Regan, Declan P; Lumbers, R T; Goel, Anuj; Tadros, Rafik; Michels, Michelle; Watkins, Hugh; Bezzina, Connie R; Ware, James S

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

大规模全基因组关联分析揭示肥厚型心肌病的新遗传位点和机制

Tadros, Rafik; Zheng, Sean L; Grace, Christopher; Jordà, Paloma; Francis, Catherine; West, Dominique M; Jurgens, Sean J; Thomson, Kate L; Harper, Andrew R; Ormondroyd, Elizabeth; Xu, Xiao; Theotokis, Pantazis I; Buchan, Rachel J; McGurk, Kathryn A; Mazzarotto, Francesco; Boschi, Beatrice; Pelo, Elisabetta; Lee, Michael; Noseda, Michela; Varnava, Amanda; Vermeer, Alexa M C; Walsh, Roddy; Amin, Ahmad S; van Slegtenhorst, Marjon A; Roslin, Nicole M; Strug, Lisa J; Salvi, Erika; Lanzani, Chiara; de Marvao, Antonio; Roberts, Jason D; Tremblay-Gravel, Maxime; Giraldeau, Genevieve; Cadrin-Tourigny, Julia; L'Allier, Philippe L; Garceau, Patrick; Talajic, Mario; Gagliano Taliun, Sarah A; Pinto, Yigal M; Rakowski, Harry; Pantazis, Antonis; Bai, Wenjia; Baksi, John; Halliday, Brian P; Prasad, Sanjay K; Barton, Paul J R; O'Regan, Declan P; Cook, Stuart A; de Boer, Rudolf A; Christiaans, Imke; Michels, Michelle; Kramer, Christopher M; Ho, Carolyn Y; Neubauer, Stefan; Matthews, Paul M; Wilde, Arthur A M; Tardif, Jean-Claude; Olivotto, Iacopo; Adler, Arnon; Goel, Anuj; Ware, James S; Bezzina, Connie R; Watkins, Hugh

Cervical pessary versus vaginal progesterone in women with a multiple pregnancy and a short cervix: A randomised controlled trial

多胎妊娠且宫颈短的女性使用宫颈托与阴道孕酮的疗效比较:一项随机对照试验

van Dijk, Charlotte E; van Gils, Annabelle L; van Zijl, Maud D; Koullali, Bouchra; van der Weide, Marijke C; van den Akker, Eline S; Hermsen, Brenda J; van Drongelen, Joris; de Boer, Marjon A; van Baal, Wilhelmina M; Vollebregt, Karlijn C; van der Made, Flip W; Gordijn, Sanne J; Sueters, Marieke; Wijnberger, Lia D E; Oudijk, Martijn A; Mol, Ben W J; Kazemier, Brenda M; Pajkrt, Eva

Vulvar and vaginal cancer during pregnancy: A pooled analysis of 15 cases from the International Network on Cancer, Infertility and Pregnancy and review of the literature

妊娠期外阴和阴道癌:国际癌症、不孕症和妊娠网络15例病例的汇总分析及文献综述

LeJeune, Charlotte L; Santrosyan, Gajane; Koning, Anna S; de Boer, Marjon A; Lok, Christianne A R; Ottevanger, Nelleke; Cardonick, Elyce; Fruscio, Robert; Shmakov, Roman G; Storgaard, Lone; Van Calsteren, Kristel; Halaska, Michael J; Amant, Frédéric

The psychosocial impact of cancer diagnosis in pregnancy: a multicenter cohort study of psychosocial challenges in pregnant cancer patients and their partners

妊娠期癌症诊断的心理社会影响:一项关于妊娠期癌症患者及其伴侣心理社会挑战的多中心队列研究

Huis In 't Veld, Evangeline A; van Gerwen, Mathilde; van Dijk-Lokkart, Elisabeth M; Vandenbroucke, Tineke; Dandis, Rana; LeJeune, Charlotte L; van Assche, Indra; Cardonick, Elyce; Peters, Inge T A; Fagotti, Anna; Lok, Christianne; Boere, Ingrid; de Boer, Marjon A; Suelmann, Britt B M; Gordijn, Sanne J; Ottevanger, Nelleke; Mhallem, Mina; Bekkers, Ruud; Tummers, Philippe; Chieffo, Daniela; van Grotel, Martine; Van Calsteren, Kristel; van den Heuvel-Eibrink, Marry M; Amant, Frédéric

Assessing the psychometric properties of generic (EQ-5D-5L) and disease-specific (KCCQ) quality of life in patients with hypertrophic cardiomyopathy in the AFFECT-HCM study

在 AFFECT-HCM 研究中评估肥厚型心肌病患者通用生活质量量表(EQ-5D-5L)和疾病特异性生活质量量表(KCCQ)的心理测量学特性

Wiethoff, Isabell; Schoonvelde, Stephan A C; de Boer, Rudolf A; Evers, Silvia M A A; Germans, Tjeerd; Hirsch, Alexander; Knackstedt, Christian; Te Rijdt, Wouter P; van Slegtenhorst, Marjon A; Schinkel, Arend F L; Zwetsloot, Peter-Paul; Michels, Michelle; Hiligsmann, Mickael