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

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma

掌跖角化症患者的临床和遗传学发现

Gram, Stine Bjørn; Brusgaard, Klaus; Lei, Ulrikke; Sommerlund, Mette; Vinding, Gabrielle Randskov; Sleire, Sondre Olai Kjellevold; Christensen, Alex Hørby; Fast, Sanne Pedersen; Bach, Rasmus; Bygum, Anette; Ousager, Lilian Bomme

Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study

Birt-Hogg-Dubé综合征患者肺功能变化趋势:一项回顾性队列研究

Holmager, Marie Moldt; Wordenskjold Stougaard, Sarah; Graumann, Ole; Præstegaard, Marianne; Ousager, Lilian Bomme; Lund, Lars; Schuster, Annette; Falster, Casper; Davidsen, Jesper Rømhild

Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk

足底角化过度和卷发可作为心肌病风险的诊断线索

Gram, Stine Bjørn; Brusgaard, Klaus; Bygum, Anette; Christensen, Alex Hørby; Ousager, Lilian Bomme

Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant

部分3β-羟类固醇脱氢酶2型缺乏症的延迟诊断——一种新基因变异的特征

Øzdemir, Cagla Margit; Nielsen, Mette Mølby; Liimatta, Jani; Voegel, Clarissa D; Elzenaty, Rawda Naamneh; Wasehuus, Victor S; Lind-Holst, Marie; Ornstrup, Marie Juul; Gram, Stine Bjørn; Ousager, Lilian Bomme; Flück, Christa E; Gravholt, Claus H

Cancer risk and mortality in patients with solitary juvenile polyps-A nationwide cohort study with matched controls

孤立性幼年性息肉患者的癌症风险和死亡率——一项全国性队列研究及匹配对照组

Jelsig, Anne Marie; Wullum, Laus; Kuhlmann, Tine Plato; Ousager, Lilian Bomme; Burisch, Johan; Karstensen, John Gásdal

Cancer risk and mortality in patients with solitary Peutz-Jeghers polyps

孤立性Peutz-Jeghers息肉患者的癌症风险和死亡率

Jelsig, Anne Marie; Wullum, Laus; Ousager, Lilian Bomme; Burish, Johan; Kühlmann, Tine Plato; Karstensen, John Gásdal

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature

点状掌跖角化症1型与恶性肿瘤相关吗?文献系统综述

Gram, S B; Bjerrelund, J; Jelsig, A M; Bygum, A; Leboeuf-Yde, C; Ousager, L B

The Danish-American Research Exchange (DARE): a cross-sectional study of a binational research education program

丹麦-美国研究交流项目(DARE):一项双边研究教育项目的横断面研究

Mehta, Kala M; Petersen, Karin Lottrup; Goodman, Steve; Sørensen, Henrik Toft; Bøgsted, Martin; Olesen, Jeppe Dørup; Burks, Sylvia; Shaw, Richard E; Hove, Jens Dahlgaard; Ousager, Jakob; Milla, Carlos; Andersen, Vibeke; Ejskjær, Niels; Brix-Christensen, Vibeke; Ghose, Shomit; Kjær, Andreas; Chin-Hong, Peter V

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

位于浮港综合征基因座之外的SRCAP截断变异会导致一种独特的神经发育障碍,并具有特定的DNA甲基化特征。

Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata J M; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review

遗传性平滑肌瘤病和肾细胞癌:病例系列及文献综述

Chayed, Zahraa; Kristensen, Lone Krøldrup; Ousager, Lilian Bomme; Rønlund, Karina; Bygum, Anette