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

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3相关神经发育障碍的综合分析:表型和基因型特征

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsma, Emilia K; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H; Sherr, Elliott H; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J A; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette

Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk

PTEN错构瘤肿瘤综合征中的非浆液性卵巢癌:风险增加的更多证据。

Schei-Andersen, Ane J; Witjes, Vera M; Vos, Janet R; Mensenkamp, Arjen R; van Altena, Anne; Schieving, Jolanda; Simons, Michiel; Schuurs-Hoeijmakers, Janneke H M; Hoogerbrugge, Nicoline

Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome

PTEN错构瘤肿瘤综合征专科中心经验:甲状腺超声监测在PTEN错构瘤肿瘤综合征患儿中的应用价值

Bormans, Esther M G; Schuurs-Hoeijmakers, Janneke H M; van Setten, Petra; Hendricks, Linda A J; Drissen, Meggie M C M; Gotthardt, Martin; Claahsen-van der Grinten, Hedi L; Hoogerbrugge, Nicoline; Schieving, Jolanda H

Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients

对PTEN错构瘤肿瘤综合征患者病理确诊的良性病变进行深度表型分析

Schei-Andersen, Ane J; Schuurs-Hoeijmakers, Janneke H M; van der Post, Rachel; Mensenkamp, Arjen R; Schieving, Jolanda; Vos, Janet R; Hoogerbrugge, Nicoline

Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome

探索口腔特征在PTEN错构瘤肿瘤综合征早期检测中的普遍性

Schei-Andersen, Ane J; van Oirschot, Bart; Drissen, Meggie M C M; Schieving, Jolanda; Schuurs-Hoeijmakers, Janneke H M; Vos, Janet R; Barton, Claire M; Hoogerbrugge, Nicoline

A Dutch paediatric palliative care guideline: a systematic review and evidence-based recommendations for symptom treatment

荷兰儿科姑息治疗指南:症状治疗的系统评价和循证建议

van Teunenbroek, Kim C; Mulder, Renée L; Ahout, Inge M L; Bindels-de Heus, Karen G C B; Delsman-van Gelder, Catharina M; Galimont-Collen, Annemie F S; de Groot, Marinka A R; Heitink-Polle, Katja M J; Looijestijn, Jeffry; Mensink, Maarten O; Mulder, Selma; Schieving, Jolanda H; Schouten-van Meeteren, Antoinette Y N; Verheijden, Johannes M A; Rippen, Hester; Borggreve, Brigitt C M; Kremer, Leontien C M; Verhagen, A A Eduard; Michiels, Erna M C

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

CERT1基因突变通过破坏鞘脂稳态来扰乱人类发育。

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marjia; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

KDM2B相关神经发育障碍及其相关DNA甲基化特征的阐明

van Jaarsveld, Richard H; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C; Ciolfi, Andrea; van Essen, Ton A J; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A; Lewis, M E Suzanne; Lichty, Angie; Mannens, Marcel M A M; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A; Yosovich, Keren; Yuskaitis, Christopher J; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Mariëlle; Oegema, Renske

Interprofessional simulation of acute care for nursing and medical students: interprofessional competencies and transfer to the workplace

针对护理和医学学生的急症护理跨专业模拟:跨专业能力及其向工作场所的转化

Krielen, Pepijn; Meeuwsen, Malon; Tan, Edward C T H; Schieving, Jolanda H; Ruijs, Annelies J E M; Scherpbier, Nynke D