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

Prediction of Adverse Perinatal Outcome in Monochorionic Twin Pregnancy Using Fetal Biometry and Doppler Data: A Multicentre Cohort Study

利用胎儿生物测量和多普勒数据预测单绒毛膜双胎妊娠不良围产期结局:一项多中心队列研究

Lopian, Miriam; Giorgione, Veronica; Trapani, Mariarita; Brutto, Mariafrancesca; Ferrante, Maria Giulia; Bhide, Amar; Jani, Jacques C; Badr, Dominique A; Ghi, Tullio; Bevilacqua, Elisa; Thilaganathan, Basky; Familiari, Alessandra

LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics

LIMK1 变异与不同的内分泌表型和改变的胞吐动力学相关。

Irena J J Muffels ,Theodore Carter ,Holger Rehmann ,Sebastiaan J Vastert ,Annemarie A Verrijn Stuart ,Andreas C Blank ,Aurore Garde ,Bert van der Zwaag ,Iris M De Lange ,Jacques C Giltay ,Koen L I van Gassen ,Klaas Koop ,Cedric S Asensio ,Peter M van Hasselt

Aspirin, Birthweight, and Large-For-Gestational-Age Neonates: A Secondary Analysis of the ASPRE Trial

阿司匹林、出生体重和大于胎龄儿:ASPRE试验的二次分析

Rolnik, Daniel L; Poon, Liona C; Syngelaki, Argyro; Wright, David; O'Gorman, Neil; de Paco Matallana, Catalina; Akolekar, Ranjit; Janga, Deepa; Singh, Mandeep; Molina, Francisca S; Persico, Nicola; Jani, Jacques C; Plasencia, Walter; Papaioannou, George; Tenenbaum-Gavish, Kinneret; Meiri, Hamutal; Nicolaides, Kypros H

Predicting Adverse Perinatal Outcomes in Dichorionic Twin Pregnancies: A Multicentre Cohort Study

预测双绒毛膜双胎妊娠不良围产期结局:一项多中心队列研究

Giorgione, Veronica; Trapani, Mariarita; Lopian, Miriam; Brutto, Mariafrancesca; Ferrante, Maria Giulia; Bhide, Amarnath; Jani, Jacques C; Badr, Dominique A; Ghi, Tullio; Thilaganathan, Basky; Familiari, Alessandra; Bevilacqua, Elisa

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

CSMD1 中的双等位基因变异与一种神经发育障碍有关,该障碍会导致智力障碍和各种皮质畸形

Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K L I van Gassen, Jacques C Giltay, Re

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

CSMD1基因的双等位基因变异与一种神经发育障碍有关,该障碍伴有智力障碍和不同程度的皮质畸形。

Elizabeth A Werren,Emily R Peirent,Henna Jantti,Alba Guxholli,Kinshuk Raj Srivastava,Naama Orenstein,Vinodh Narayanan,Wojciech Wiszniewski,Mateusz Dawidziuk,Pawel Gawlinski,Muhammad Umair,Amjad Khan,Shahid Niaz Khan,David Geneviève,Daphné Lehalle,K L I van Gassen,Jacques C Giltay,Renske Oegema,Richard H van Jaarsveld,Rafiullah Rafiullah,Gudrun A Rappold,Rachel Rabin,John G Pappas,Marsha M Wheeler,Michael J Bamshad,Yao-Chang Tsan,Matthew B Johnson,Catherine E Keegan,Anshika Srivastava #,Stephanie L Bielas #

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome

LINE1 介导的雄激素受体转录表观遗传抑制导致雄激素不敏感综合征

Jelena Pozojevic, Radhika Sivaprasad, Joshua Laß, Franziska Haarich, Joanne Trinh, Naseebullah Kakar, Kristin Schulz, Kristian Händler, Annemarie A Verrijn Stuart, Jacques C Giltay, Koen L van Gassen, Almuth Caliebe, Paul-Martin Holterhus, Malte Spielmann, Nadine C Hornig3

The experience of women who delivered during the first wave of COVID-19 pandemic in Belgium: a retrospective study

比利时新冠疫情第一波期间分娩女性的经历:一项回顾性研究

Wafi, Ahmed; Rosetti, Jerome; De Brucker, Michael; Mezela, Iris; Abbib, Nouhaila; Jani, Jacques C; Badr, Dominique A

Nasopharyngeal SARS-CoV-2 load and perinatal outcomes after maternal infection diagnosed close to delivery

分娩前确诊孕妇感染SARS-CoV-2后,鼻咽部SARS-CoV-2病毒载量与围产期结局的关系

Vivanti, Alexandre J; Vauloup-Fellous, Christelle; Khalil, Asma; Badr, Dominique A; Raimondi, Francesco; Salome, Serena; Prasad, Smriti; Portella, Giuseppe; Fiorenza, Mariano; Jani, Jacques C; Landraud, Luce; Picone, Olivier; Pezza, Lucilla; Bourgeois-Nicolaos, Nadege; Cordier, Anne-Gael; Vedovelli, Luca; De Luca, Daniele

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

BRCA1相关蛋白1(BAP1)中罕见的种系杂合错义变异会导致一种综合征性神经发育障碍。

Küry, Sébastien; Ebstein, Frédéric; Mollé, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M S; Giltay, Jacques C; Cogné, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E; Wentzensen, Ingrid M; Denommé-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W; Faurie, Eva; Schot, Rachel; Stevens, Cathy A; Smits, Daphne J; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A; Stimach, Chandler L; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H; Hurst, Anna C E; Smith, Kirstin; Baugh, Evan H; Bohm, Suzanne G; Vyhnálková, Emílie; Ryba, Lukáš; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A; Audebert-Bellanger, Séverine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frédéric; Berger, Seth I; Smith, Ann C M; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krüger, Elke; Margueron, Raphaël; Bézieau, Stéphane; Poschmann, Jeremie; Isidor, Bertrand