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

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

Outbreaks of healthcare-associated infections linked to water-containing hospital equipment: a literature review

与含水医院设备相关的医疗机构感染暴发:文献综述

Yiek, Wing-Kee; Coenen, Olga; Nillesen, Mayke; van Ingen, Jakko; Bowles, Edmée; Tostmann, Alma

Nosocomial outbreak of multi-resistant Streptococcus pneumoniae serotype 15A in a centre for chronic pulmonary diseases

慢性肺病中心发生多重耐药性肺炎链球菌15A血清型院内感染暴发

Bastiaens, Guido J H; Cremers, Amelieke J H; Coolen, Jordy P M; Nillesen, Mayke T; Boeree, Martin J; Hopman, Joost; Wertheim, Heiman F L

Strain imaging of the lateral collateral ligament using high frequency and conventional ultrasound imaging: An ex-vivo comparison

利用高频和常规超声成像技术对侧副韧带进行应变成像:一项离体比较研究

Gijsbertse, Kaj; Sprengers, André; Naghibi Beidokhti, Hamid; Nillesen, Maartje; de Korte, Chris; Verdonschot, Nico

The increase of the global donor inventory is of limited benefit to patients of non-Northwestern European descent

全球捐献者数量的增加对非西北欧血统的患者益处有限

van Walraven, Suzanna M; Brand, Anneke; Bakker, Jack N A; Heemskerk, Martin B A; Nillesen, Suzan; Bierings, Marc B; Bungener, Laura B; Hepkema, Bouke G; Lankester, Arjan; van der Meer, Arnold; Sintnicolaas, Kees; Somers, Judith A E; Spierings, Eric; Tilanus, Marcel G J; Voorter, Christien E M; Cornelissen, Jan J; Oudshoorn, Machteld

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

胼胝体缺陷、发育迟缓、身材矮小和畸形患者中 Krüppel 型锌指基因 ZNF148 的截断性新生突变

Stevens, Servi J C; van Essen, Anthonie J; van Ravenswaaij, Conny M A; Elias, Abdallah F; Haven, Jaclyn A; Lelieveld, Stefan H; Pfundt, Rolph; Nillesen, Willy M; Yntema, Helger G; van Roozendaal, Kees; Stegmann, Alexander P; Gilissen, Christian; Brunner, Han G

Novel genetic causes for cerebral visual impairment

导致脑性视觉障碍的新型遗传病因

Bosch, Daniëlle G M; Boonstra, F Nienke; de Leeuw, Nicole; Pfundt, Rolph; Nillesen, Willy M; de Ligt, Joep; Gilissen, Christian; Jhangiani, Shalini; Lupski, James R; Cremers, Frans P M; de Vries, Bert B A

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

两名携带致病性AUTS2变异(包括双碱基对缺失)的成年男性进一步阐明了AUTS2综合征的特征。

Beunders, Gea; de Munnik, Sonja A; Van der Aa, Nathalie; Ceulemans, Berten; Voorhoeve, Els; Groffen, Alexander J; Nillesen, Willy M; Meijers-Heijboer, Elizabeth J; Frank Kooy, R; Yntema, Helger G; Sistermans, Erik A

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

A2ML1基因的杂合种系突变与一种临床上类似于努南综合征的疾病相关。

Vissers, Lisenka E L M; Bonetti, Monica; Paardekooper Overman, Jeroen; Nillesen, Willy M; Frints, Suzanna G M; de Ligt, Joep; Zampino, Giuseppe; Justino, Ana; Machado, José C; Schepens, Marga; Brunner, Han G; Veltman, Joris A; Scheffer, Hans; Gros, Piet; Costa, José L; Tartaglia, Marco; van der Burgt, Ineke; Yntema, Helger G; den Hertog, Jeroen

Variants in CUL4B are associated with cerebral malformations.

CUL4B基因变异与脑畸形有关

Vulto-van Silfhout Anneke T, Nakagawa Tadashi, Bahi-Buisson Nadia, Haas Stefan A, Hu Hao, Bienek Melanie, Vissers Lisenka E L M, Gilissen Christian, Tzschach Andreas, Busche Andreas, Müsebeck Jörg, Rump Patrick, Mathijssen Inge B, Avela Kristiina, Somer Mirja, Doagu Fatma, Philips Anju K, Rauch Anita, Baumer Alessandra, Voesenek Krysta, Poirier Karine, Vigneron Jacqueline, Amram Daniel, Odent Sylvie, Nawara Magdalena, Obersztyn Ewa, Lenart Jacek, Charzewska Agnieszka, Lebrun Nicolas, Fischer Ute, Nillesen Willy M, Yntema Helger G, Järvelä Irma, Ropers Hans-Hilger, de Vries Bert B A, Brunner Han G, van Bokhoven Hans, Raymond F Lucy, Willemsen Michèl A A P, Chelly Jamel, Xiong Yue, Barkovich A James, Kalscheuer Vera M, Kleefstra Tjitske, de Brouwer Arjan P M