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

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling

1型神经纤维瘤病胚胎植入前遗传学检测:分子遗传学方面及其对生育咨询的影响

Vernimmen, V; De Rycke, M; Moutou, C; Dreesen, J; Blok, M J; van Minkelen, R; Lauer-Zillhardt, J; Verdyck, P; Keymolen, K; van Uum, C; Homminga, I; Brandts, L; Stumpel, C T R M; Coonen, E; Heijligers, M; van Zelst-Stams, W; Zamani Esteki, M; van den Wijngaard, A; de Die-Smulders, C E M; Paulussen, A D C

APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos

APCAD 第二部分:一种检测植入前胚胎减数分裂非整倍体的新方法

Verdyck, Pieter; Berckmoes, Veerle; Fernandez Gallardo, Elia; Keymolen, Kathelijn; Olsen, Catharina; De Rycke, Martine

Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations

寻求一种释怀感:因先天性畸形而终止妊娠后父母重新联系的经历

Slegers, Ileen; Keymolen, Kathelijn; Van Berkel, Kim; Dimitrov, Boyan; Van Dooren, Sonia; Cooreman, Rani; Hes, Frederik; Fobelets, Maaike

Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function

HGF基因的致病性变异会导致功能丧失,从而引发儿童期至晚年发病的原发性淋巴水肿。

Murat Alpaslan,Elodie Fastré,Sandrine Mestre,Arie van Haeringen,Gabriela M Repetto,Kathelijn Keymolen,Laurence M Boon,Florence Belva,Guido Giacalone,Nicole Revencu,Yves Sznajer,Katie Riches,Vaughan Keeley ,Sahar Mansour ,Kristiana Gordon ,Silvia Martin-Almedina,Sara Dobbins,Pia Ostergaard,Isabelle Quere,Pascal Brouillard,Miikka Vikkula

Cleavage-stage or blastocyst-stage embryo biopsy has no impact on growth and health in children up to 2 years of age

卵裂期或囊胚期胚胎活检对2岁以下儿童的生长发育和健康没有影响。

Belva, Florence; Kondowe, Fiskani; De Vos, Anick; Keymolen, Kathelijn; Buysse, Andrea; Hes, Frederik; Berckmoes, Veerle; Verdyck, Pieter; Verpoest, Willem; De Rycke, Martine

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

先天性脑积水:新的孟德尔突变及寡基因遗传的证据

Jacquemin, Valerie; Versbraegen, Nassim; Duerinckx, Sarah; Massart, Annick; Soblet, Julie; Perazzolo, Camille; Deconinck, Nicolas; Brischoux-Boucher, Elise; De Leener, Anne; Revencu, Nicole; Janssens, Sandra; Moorgat, Stèphanie; Blaumeiser, Bettina; Avela, Kristiina; Touraine, Renaud; Abou Jaoude, Imad; Keymolen, Kathelijn; Saugier-Veber, Pascale; Lenaerts, Tom; Abramowicz, Marc; Pirson, Isabelle

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

GRIN1 和 GRIN2B 致病变异患者的重叠皮质畸形

Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina

Defining the phenotypical spectrum associated with variants in TUBB2A

确定与 TUBB2A 变异相关的表型谱

Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria Simonetta; Webster, Richard; Mohammad, Shekeeb; Leventer, Richard J; Mirzaa, Ghayda; Dobyns, William B; Bahi-Buisson, Nadia; Meuwissen, Marije; Jansen, Anna C; Stouffs, Katrien

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

非近亲结婚和近亲结婚原发性小头畸形的表型和基因型:癫痫发病率高

Duerinckx, Sarah; Désir, Julie; Perazzolo, Camille; Badoer, Cindy; Jacquemin, Valérie; Soblet, Julie; Maystadt, Isabelle; Tunca, Yusuf; Blaumeiser, Bettina; Ceulemans, Berten; Courtens, Winnie; Debray, François-Guillaume; Destree, Anne; Devriendt, Koenraad; Jansen, Anna; Keymolen, Kathelijn; Lederer, Damien; Loeys, Bart; Meuwissen, Marije; Moortgat, Stéphanie; Mortier, Geert; Nassogne, Marie-Cécile; Sekhara, Tayeb; Van Coster, Rudy; Van Den Ende, Jenny; Van der Aa, Nathalie; Van Esch, Hilde; Vanakker, Olivier; Verhelst, Helene; Vilain, Catheline; Weckhuysen, Sarah; Passemard, Sandrine; Verloes, Alain; Aeby, Alec; Deconinck, Nicolas; Van Bogaert, Patrick; Pirson, Isabelle; Abramowicz, Marc

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

一例产前诊断为无脑回畸形伴小脑发育不全的病例:RELN基因新突变

Balza, Claire; Garofalo, Giulia; Cos, Teresa; Désir, Julie; Kang, Xin; Keymolen, Kathelijn; Soblet, Julie; Van Berkel, Kim; Vilain, Catheline; Ben Abbou, Wafa; Cassart, Marie