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

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants

在新生突变的背景下,常见变异会增加先天性膈疝的风险。

Qiao, Lu; Welch, Carrie L; Hernan, Rebecca; Wynn, Julia; Krishnan, Usha S; Zalieckas, Jill M; Buchmiller, Terry; Khlevner, Julie; De, Aliva; Farkouh-Karoleski, Christiana; Wagner, Amy J; Heydweiller, Andreas; Mueller, Andreas C; de Klein, Annelies; Warner, Brad W; Maj, Carlo; Chung, Dai; McCulley, David J; Schindel, David; Potoka, Douglas; Fialkowski, Elizabeth; Schulz, Felicitas; Kipfmuller, Florian; Lim, Foong-Yen; Magielsen, Frank; Mychaliska, George B; Aspelund, Gudrun; Reutter, Heiko Martin; Needelman, Howard; Schnater, J Marco; Fisher, Jason C; Azarow, Kenneth; Elfiky, Mahmoud; Nöthen, Markus M; Danko, Melissa E; Li, Mindy; Kosiński, Przemyslaw; Wijnen, Rene M H; Cusick, Robert A; Soffer, Samuel Z; Cochius-Den Otter, Suzan C M; Schaible, Thomas; Crombleholme, Timothy; Duron, Vincent P; Donahoe, Patricia K; Sun, Xin; High, Frances A; Bendixen, Charlotte; Brosens, Erwin; Shen, Yufeng; Chung, Wendy K

Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature

近端尿道下裂患者的全基因组甲基化分析——一项初步研究及文献综述

van Bever, Yolande; Boers, Ruben G; Brüggenwirth, Hennie T; van IJcken, Wilfred Fj; Magielsen, Frank J; de Klein, Annelies; Boers, Joachim B; Looijenga, Leendert Hj; Brosens, Erwin; Gribnau, Joost; Hannema, Sabine E

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

全基因组测序揭示了与高度近视相关的罕见变异

Haarman, Annechien E G; Klaver, Caroline C W; Tedja, Milly S; Roosing, Susanne; Astuti, Galuh; Gilissen, Christian; Hoefsloot, Lies H; van Tienhoven, Marianne; Brands, Tom; Magielsen, Frank J; Eussen, Bert H J F M M; de Klein, Annelies; Brosens, Erwin; Verhoeven, Virginie J M

Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma

SF3B1 突变葡萄膜黑色素瘤早期转移的鉴定

Wojtek Drabarek, Job van Riet, Josephine Q N Nguyen, Kyra N Smit, Natasha M van Poppelen, Rick Jansen, Eva Medico-Salsench, Jolanda Vaarwater, Frank J Magielsen, Tom Brands, Bert Eussen, Thierry P P van den Bosch, Robert M Verdijk, Nicole C Naus, Dion Paridaens, Annelies de Klein, Erwin Brosens, Har

Molecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis

结膜黑色素瘤的分子遗传学及TERT启动子突变分析的预后价值

van Poppelen, Natasha M; van Ipenburg, Jolique A; van den Bosch, Quincy; Vaarwater, Jolanda; Brands, Tom; Eussen, Bert; Magielsen, Frank; Dubbink, Hendrikus J; Paridaens, Dion; Brosens, Erwin; Naus, Nicole; de Klein, Annelies; Kiliç, Emine; Verdijk, Robert M

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

病例报告及文献综述:先天性膈疝与颅缝早闭,是巧合还是共同原因?

Gaillard, Linda; Goverde, Anne; van den Bosch, Quincy C C; Jehee, Fernanda S; Brosens, Erwin; Veenma, Danielle; Magielsen, Frank; de Klein, Annelies; Mathijssen, Irene M J; van Dooren, Marieke F

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

鉴定出 TXNL4A 中导致 Burn-McKeown 综合征和孤立性后鼻孔闭锁的致病变异

Goos Jacqueline A C, Swagemakers Sigrid M A, Twigg Stephen R F, van Dooren Marieke F, Hoogeboom A Jeannette M, Beetz Christian, Günther Sven, Magielsen Frank J, Ockeloen Charlotte W, A Ramos-Arroyo Maria, Pfundt Rolph, Yntema Helger G, van der Spek Peter J, Stanier Philip, Wieczorek Dagmar, Wilkie Andrew O M, van den Ouweland Ans M W, Mathijssen Irene M J, Hurst Jane A

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis

通过全基因组或靶向测序鉴定TCF12基因内外显子缺失和重复是TCF12相关颅缝早闭的病因

Goos, Jacqueline A C; Fenwick, Aimee L; Swagemakers, Sigrid M A; McGowan, Simon J; Knight, Samantha J L; Twigg, Stephen R F; Hoogeboom, A Jeannette M; van Dooren, Marieke F; Magielsen, Frank J; Wall, Steven A; Mathijssen, Irene M J; Wilkie, Andrew O M; van der Spek, Peter J; van den Ouweland, Ans M W