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

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Smith-Magenis综合征和Potocki-Lupski综合征的DNA甲基化表观遗传特征:镜像视角

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

CUL3相关神经发育障碍:20例新患者的临床表型及潜在表型相关表观遗传特征的鉴定

van der Laan, Liselot; Silva, Ananília; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B A; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y; Levy, Michael A; Lock-Hock, Ngu; Maas, Saskia M; Mancini, Grazia M S; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

阐明SETD1B相关综合征的分子和表型谱

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan

Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report

一例PTHLH重复综合征患儿因软骨发育不良、内生软骨瘤和胸廓畸形导致严重肺部疾病:病例报告

Tacke, Carline E; Terheggen-Lagro, Suzanne W J; Boot, Annemieke M; Plomp, Astrid S; Polstra, Abeltje M; van Rijn, Rick R; Struijs, Peter A A; van den Berg, Henk; Mooij, Christiaan F

Creating value with eHealth: identification of the value proposition with key stakeholders for the resilience navigator app

利用电子健康创造价值:与关键利益相关者共同确定韧性导航应用程序的价值主张

Lentferink, Aniek; Polstra, Louis; D'Souza, Austin; Oldenhuis, Hilbrand; Velthuijsen, Hugo; van Gemert-Pijnen, Lisette

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

心肌蛋白功能缺失变异会导致人类和小鼠出现先天性巨膀胱。

Houweling, Arjan C; Beaman, Glenda M; Postma, Alex V; Gainous, T Blair; Lichtenbelt, Klaske D; Brancati, Francesco; Lopes, Filipa M; van der Made, Ingeborg; Polstra, Abeltje M; Robinson, Michael L; Wright, Kevin D; Ellingford, Jamie M; Jackson, Ashley R; Overwater, Eline; Genesio, Rita; Romano, Silvio; Camerota, Letizia; D'Angelo, Emanuela; Meijers-Heijboer, Elizabeth J; Christoffels, Vincent M; McHugh, Kirk M; Black, Brian L; Newman, William G; Woolf, Adrian S; Creemers, Esther E

Key Components in eHealth Interventions Combining Self-Tracking and Persuasive eCoaching to Promote a Healthier Lifestyle: A Scoping Review

结合自我追踪和说服性电子指导以促进更健康生活方式的电子健康干预措施的关键组成部分:范围界定综述

Lentferink, Aniek J; Oldenhuis, Hilbrand Ke; de Groot, Martijn; Polstra, Louis; Velthuijsen, Hugo; van Gemert-Pijnen, Julia Ewc

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

非典型 16p11.2 缺失:一种不那么典型的微缺失综合征?

Daniela Q C M Barge-Schaapveld, Saskia M Maas, Abeltje Polstra, Lia C Knegt, Raoul C M Hennekam

Human herpesvirus 8 load in matched serum and plasma samples of patients with AIDS-associated Kaposi's sarcoma

艾滋病相关卡波西肉瘤患者配对血清和血浆样本中人疱疹病毒8型载量

Polstra, Abeltje M; Van Den Burg, Remco; Goudsmit, Jaap; Cornelissen, Marion

Multicentric Castleman's disease and Kaposi's sarcoma in a cyclosporin treated, HIV-1 negative patient: case report

环孢素治疗的HIV-1阴性患者出现多中心性卡斯特曼病和卡波西肉瘤:病例报告

Bollen, JM; Polstra, AM; Van Der Kuyl, AC; Weel, JF; Noorduyn, LA; Van Oers, MHJ; Cornelissen, M