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

New insights into the generation and role of de novo mutations in health and disease

关于新生突变的产生及其在健康和疾病中的作用的新见解

Acuna-Hidalgo, Rocio; Veltman, Joris A; Hoischen, Alexander

Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes

在2054个非人灵长类动物基因组中,与自闭症谱系障碍相关的进化受限基因

Kikuchi, Yukiko; Uddin, Mohammed; Veltman, Joris A; Wells, Sara; Morris, Christopher; Woodbury-Smith, Marc

Ethics in editorship: lessons from a major retraction incident

编辑伦理:从一起重大撤稿事件中汲取的教训

Veltman, Joris A

Identification of missense DMC1 variants in males with non-obstructive azoospermia

在非梗阻性无精子症男性中鉴定出DMC1错义变异

Ullah, Noor; Pombar, Christopher; Hvasta-Gloria, Rachel; Berman, Andrea J; Malizio, Michelle; Khan, Muhammad Jaseem; Nazli, Rubina; Fatima, Sadia; Riera-Escamilla, Antoni; Castillo-Madeen, Helen; Malcher, Agnieszka; Olszewska, Marta; Xavier, Miguel J; Lillepea, Kristiina; Dutta, Avirup; Castro, Carlos A; Valkna, Anu; Inno, Rain; Orwig, Kyle E; Conrad, Donald F; Kurpisz, Maciej; Veltman, Joris A; Laan, Maris; Yatsenko, Alexander N

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia

睾丸精子提取结果的遗传决定因素:一项针对非梗阻性无精子症男性的大型多中心研究的启示

Riera-Escamilla, Antoni; Arafa, Mohamed M; Farnetani, Ginevra; Xavier, Miguel J; Oud, Manon S; Majzoub, Ahmad A; Ramos, Liliana; Abrardo, Chiara; Spinelli, Matilde; Moreno-Mendoza, Daniel; Defazio, Giuseppe; Ars, Elisabet; Pybus, Marc; Sánchez Curbelo, Josvany R; Elbardisi, Haitham T; Nawaz, Shoaib; Syed, Najeeb; Ruiz-Castané, Eduard; van der Heijden, Godfried W; Fakhro, Khalid A; Veltman, Joris A; Krausz, Csilla

Improved phenotypic classification of male infertility to promote discovery of genetic causes

改进男性不育症的表型分类,以促进遗传病因的发现

Wyrwoll, Margot J; van der Heijden, Godfried W; Krausz, Csilla; Aston, Kenneth I; Kliesch, Sabine; McLachlan, Robert; Ramos, Liliana; Conrad, Donald F; O'Bryan, Moira K; Veltman, Joris A; Tüttelmann, Frank

Current global status of male reproductive health

当前全球男性生殖健康状况

De Jonge, Christopher J; Barratt, Christopher L R; Aitken, R John; Anderson, Richard A; Baker, Peter; Chan, David Y L; Connolly, Mark P; Eisenberg, Michael L; Garrido, Nicolas; Jørgensen, Niels; Kimmins, Sarah; Krausz, Csilla; McLachlan, Robert I; Niederberger, Craig; O'Bryan, Moira K; Pacey, Allan; Priskorn, Lærke; Rautakallio-Hokkanen, Satu; Serour, Gamal; Veltman, Joris A; Vogel, Donna L; Vazquez-Levin, Mónica H

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

同源蛋白结构域中的新生突变热点可识别神经发育障碍中的功能改变突变

Wiel, Laurens; Hampstead, Juliet E; Venselaar, Hanka; Vissers, Lisenka E L M; Brunner, Han G; Pfundt, Rolph; Vriend, Gerrit; Veltman, Joris A; Gilissen, Christian

Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach

利用大规模多扩增子长读测序方法对新生突变进行相位测定

Holt, Giles S; Batty, Lois E; Alobaidi, Bilal K S; Smith, Hannah E; Oud, Manon S; Ramos, Liliana; Xavier, Miguel J; Veltman, Joris A

Oocyte and Sperm Cryopreservation In Oncological Patients During Covid-19 Pandemic

新冠疫情期间肿瘤患者的卵子和精子冷冻保存

Houston, Brendan J; Riera-Escamilla, Antoni; Wyrwoll, Margot J; Salas-Huetos, Albert; Xavier, Miguel J; Nagirnaja, Liina; Friedrich, Corinna; Conrad, Don F; Aston, Kenneth I; Krausz, Csilla; Tüttelmann, Frank; O'Bryan, Moira K; Veltman, Joris A; Oud, Manon S; Porcu, Eleonora; Cipriani, Linda; Dirodi, Maria; Calza, Nilla; Ciotti, Patrizia Maria; Tranquillo, Maria Lucrezia; Notarangelo, Leonardo; Zuffa, Silvia; Labriola, Francesca Sonia; Damiano, Giuseppe