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

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics

综合征性听力损失及其非综合征性听力损失类似症状的临床和遗传异质性

Koparir, Asuman; Carbajal, Paulina Bahena; Zamini, Mina; Naghinejad, Maryam; Najarzadeh Torbati, Paria; Hofrichter, Michaela A H; Tovornik, Stefanie; Koparir, Erkan; Dragicevic Babic, Neda; Rad, Aboulfazl; Owrang, Daniel; Kalay, Irem; Chamanrou, Niloofar; Martínez Völter, Luis Nicolás; Christophersen, Nele; Baranzehi, Tayebeh; Rajati, Mohsen; Loum, Stephen; Kunstmann, Erdmute; Shadab, Madiha; Abbasi, Ansar Ahmed; Doosti, Mohammad; Alidadiani, Neda; Ghaderi, Shahrooz; Haack, Tobias B; Alavi, Shahryar; Doll, Julia; Kremer, Hannie; Kordi-Tamandani, Dor Mohammad; Murphy, David; Mohammad, Rahema; Hebestreit, Helge; Ghayoor Karimiani, Ehsan; Flandin, Sophie; Linares, Paola; Villalobos, Daniel; Houlden, Henry; Galehdari, Hamid; Shehata-Dieler, Wafaa; Maroofian, Reza; Haaf, Thomas; Vona, Barbara

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

对潜在剪接变体进行常规的基于RNA的分析有助于基因组诊断,并揭示计算机预测工具的局限性。

Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C W; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B R; Hollink, Iris R; Meerstein-Kessel, Lisette; Hoefsloot, Lies H; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J A; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W; Verheijen-Mancini, Grazia M; van de Laar, Ingrid M B H; Kievit, Anneke J A; Verhagen, Judith M A; Stuurman, Kyra E; Donker Kaat, Laura; van Dooren, Marieke F; Wessels, Marja W; Oldenburg, Rogier A; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J M; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J; Saris, Jasper J; Nellist, Mark; van Ham, Tjakko J

"The Way They Speak of Masters and Johnson": The Rise and Disappearance of Sex Therapy, 1960-2000

《他们谈论马斯特斯和约翰逊的方式》:性治疗的兴起与消亡,1960-2000

Smolyanitsky, Hannie

Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa

探索外显子切除作为未来治疗ADGRV1相关性视网膜色素变性的治疗干预策略

Stemerdink, Merel; Malinar, Lucija; Broekman, Sanne; Peters, Theo; Ensink, Iris; Ivanchenko, Maryna V; Venselaar, Hanka; Kremer, Hannie; de Vrieze, Erik; van Wijk, Erwin

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

通过对174名携带单等位基因致病变异的个体进行基因组测序,揭示罕见孟德尔遗传病中的隐性等位基因

Schobers, Gaby; Pennings, Maartje; de Vries, Juliette; Kwint, Michael; van Reeuwijk, Jeroen; Corominas Galbany, Jordi; van Beek, Ronald; Kamping, Eveline; Timmermans, Raoul; Kamsteeg, Erik-Jan; Haer-Wigman, Lonneke; Cremers, Frans P M; Roosing, Susanne; Gilissen, Christian; Kremer, Hannie; Brunner, Han G; Yntema, Helger G; Vissers, Lisenka E L M

Perforated Corneal Ulcer Arising From Gonococcal Keratoconjunctivitis: A Report of Three Cases

淋球菌性角膜结膜炎引起的角膜穿孔性溃疡:三例报告

Azmi, Nurul Husna; Alias, Rohanah; Vaiyavari, Valarmathy; Ch'ng, Hannie; Nasaruddin, Rona Asnida

Factors associated with and kinetics of anti-IFN-α autoantibodies in RAG1/2 deficiency

RAG1/2缺陷中抗IFN-α自身抗体的相关因素及动力学

Wang, Chen; Potts, David Evan; Sun, Bijun; Toth, Marta; Ujhazi, Boglarka; Sharapova, Svetlana; Miller, Rahim; Rosen, Lindsey; Yilmaz, Melis; Larsen, Kellie; Delmonte, Ottavia M; Poskitt, Laura E; Allenspach, Eric J; de la Morena, Maria Teresa; Ward, Brant R; Hernandez, Joseph D; Geier, Christoph B; Bolanos, Hannie Zomer; Al-Herz, Waleed; Kuijpers, Taco W; Petrov, Andrej A; Savic, Sinisa; Chen, Karin; Westermann-Clark, Emma; Dutmer, Cullen M; Kanariou, Maria G; Adeli, Mehdi; Palma, Paolo; Bonfim, Carmem; Lycopoulou, Evangelia; Wolska-Kusnierz, Beata; de Barros Dorna, Mayra; Dbaibo, Ghassan; Bleesing, Jack; Moshous, Despina; Licciardi, Francesco; Neven, Benedicte; Schuetz, Catharina; Geha, Raif S; Miano, Maurizio; Goldman, Stanton C; Raasch, Jason; Gonzalez-Granado, Luis Ignacio; Celmeli, Fatih; Baris, Safa; Abraham, Roshini S; Buchbinder, David K; Butte, Manish J; Wang, Ji-Yang; Wang, Xiaochuan; Strauss, Kevin A; Holland, Steven M; Notarangelo, Luigi D; Walter, Jolan E

Digital biomarkers for non-motor symptoms in Parkinson's disease: the state of the art

帕金森病非运动症状的数字生物标志物:最新进展

Janssen Daalen, Jules M; van den Bergh, Robin; Prins, Eva M; Moghadam, Mahshid Sadat Chenarani; van den Heuvel, Rudie; Veen, Jeroen; Mathur, Soania; Meijerink, Hannie; Mirelman, Anat; Darweesh, Sirwan K L; Evers, Luc J W; Bloem, Bastiaan R

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis

TMPRSS3 听力损失的自然史和基因型-表型相关性:一项国际多中心队列分析

Colbert, Brett M; Lanting, Cris; Smeal, Molly; Blanton, Susan; Dykxhoorn, Derek M; Tang, Pei-Ciao; Getchell, Richard L; Velde, Hedwig; Fehrmann, Mirthe; Thorpe, Ryan; Chapagain, Prem; Elkhaligy, Heidy; Kremer, Hannie; Yntema, Helger; Haer-Wigman, Lonneke; Redfield, Shelby; Sun, Tieqi; Bruijn, Saskia; Plomp, Astrid; Goderie, Thadé; van de Kamp, Jiddeke; Free, Rolien H; Wassink-Ruiter, Jolien Klein; Widdershoven, Josine; Vanhoutte, Els; Rotteveel, Liselotte; Kriek, Marjolein; van Dooren, Marieke; Hoefsloot, Lies; de Gier, Heriette H W; Schaefer, Amanda; Kolbe, Diana; Azaiez, Hela; Rabie, Grace; Aburayyan, Armal; Kawas, Mariana; Kanaan, Moien; Holder, Jourdan; Usami, Shin-Ichi; Chen, Zhengyi; Dai, Pu; Holt, Jeffrey; Nelson, Rick; Choi, Byung Yoon; Shearer, Eliot; Smith, Richard J H; Pennings, Ronald; Liu, Xue Zhong

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

对大量听力障碍患者进行外显子组变异优先排序表明,IKZF2 与非综合征性听力损失相关,并指导未来对未解决病例的研究

Velde Hedwig M, Vaseghi-Shanjani Maryam, Smits Jeroen J, Ramakrishnan Gayatri, Oostrik Jaap, Wesdorp Mieke, Astuti Galuh, Yntema Helger G, Hoefsloot Lies, Lanting Cris P, Huynen Martijn A, Lehman Anna, Turvey Stuart E, Pennings Ronald J E, Kremer Hannie