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

Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants

卵母细胞/合子/胚胎成熟停滞:一项扩展NOBOX变异表型的临床研究

Van Der Kelen, Annelore; Uyttebroeck, Sophie; Van de Voorde, Stefanie; Picchetta, Ludovica; Segers, Ingrid; Vlaeminck, Jelle; Dequeker, Bart Johan H; Giron, Philippe; Capalbo, Antonio; Verpoest, Willem; Hes, Frederik J; Verdyck, Pieter; Gheldof, Alexander

Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers

在有胰腺癌和乳腺癌家族史的家族中,RAD17被鉴定为候选癌症易感基因

Joris, Sofie; Giron, Philippe; Olsen, Catharina; Seneca, Sara; Gheldof, Alexander; Staessens, Shula; Shahi, Rajendra Bahadur; De Brakeleer, Sylvia; Teugels, Erik; De Grève, Jacques; Hes, Frederik J

MCM9 compound heterozygosity in an adolescent with premature ovarian insufficiency

MCM9复合杂合子在患有卵巢早衰的青少年中

Nauwynck, Elise; De Vos, Michel; Gheldof, Alexander; Dequeker, Bart Jh; Van Der Kelen, Annelore; Hes, Frederik; Verheyden, Stephanie; Vanbesien, Jesse; Gies, Inge; De Schepper, Jean; Staels, Willem

EDIR: exome database of interspersed repeats

EDIR:散在重复序列外显子组数据库

Vo Ngoc, Laura D T; Osei, Randy; Dohr, Katrin; Olsen, Catharina; Seneca, Sara; Gheldof, Alexander

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

病例报告:一家族中先天性肌强直和布鲁加达综合征共存

Cordenier, Ann; Flamez, Anja; de Ravel, Thomy; Gheldof, Alexander; Pannone, Luigi; De Asmundis, Carlo; Pappaert, Gudrun; Bissay, Véronique

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

罕见性发育和成熟内分泌疾病的基因诊断:Endo-ERN中心的一项调查

Persani, Luca; Cools, Martine; Ioakim, Stamatina; Faisal Ahmed, S; Andonova, Silvia; Avbelj-Stefanija, Magdalena; Baronio, Federico; Bouligand, Jerome; Bruggenwirth, Hennie T; Davies, Justin H; De Baere, Elfride; Dzivite-Krisane, Iveta; Fernandez-Alvarez, Paula; Gheldof, Alexander; Giavoli, Claudia; Gravholt, Claus H; Hiort, Olaf; Holterhus, Paul-Martin; Juul, Anders; Krausz, Csilla; Lagerstedt-Robinson, Kristina; McGowan, Ruth; Neumann, Uta; Novelli, Antonio; Peyrassol, Xavier; Phylactou, Leonidas A; Rohayem, Julia; Touraine, Philippe; Westra, Dineke; Vezzoli, Valeria; Rossetti, Raffaella

Ascites in infantile onset type II Sialidosis

婴儿期发病的 II 型唾液酸沉积症伴腹水

Tazi, Kaoutar; Guy-Viterbo, Vanessa; Gheldof, Alexander; Empain, Aurélie; Paternoster, Anne; De Laet, Corinne

Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing.

1 型强直性肌营养不良胚胎干细胞表现出肌源性潜能降低、DMPK 位点 CpG 甲基化增加和 RNA 剪接错误

Franck Silvie, Couvreu De Deckersberg Edouard, Bubenik Jodi L, Markouli Christina, Barbé Lise, Allemeersch Joke, Hilven Pierre, Duqué Geoffrey, Swanson Maurice S, Gheldof Alexander, Spits Claudia, Sermon Karen D

Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis.

通过新一代测序基因组分析,在一名患有卵巢早衰的患者中发现了一种新的卵泡刺激素受体失活突变

Sassi Asma, Désir Julie, Janssens Véronique, Marangoni Martina, Daneels Dorien, Gheldof Alexander, Bonduelle Maryse, Van Dooren Sonia, Costagliola Sabine, Delbaere Anne

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

旋转蛋白细胞动力学反映出异质性临床表型和脑畸形

Vandervore, Laura V; Schot, Rachel; Kasteleijn, Esmee; Oegema, Renske; Stouffs, Katrien; Gheldof, Alexander; Grochowska, Martyna M; van der Sterre, Marianne L T; van Unen, Leontine M A; Wilke, Martina; Elfferich, Peter; van der Spek, Peter J; Heijsman, Daphne; Grandone, Anna; Demmers, Jeroen A A; Dekkers, Dick H W; Slotman, Johan A; Kremers, Gert-Jan; Schaaf, Gerben J; Masius, Roy G; van Essen, Anton J; Rump, Patrick; van Haeringen, Arie; Peeters, Els; Altunoglu, Umut; Kalayci, Tugba; Poot, Raymond A; Dobyns, William B; Bahi-Buisson, Nadia; Verheijen, Frans W; Jansen, Anna C; Mancini, Grazia M S