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

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center

谱系图谱:大型染色质病队列的临床和遗传特征分析——来自三级中心的30年经验

Marchetti, Giulia Bruna; Rosina, Erica; Meossi, Camilla; Mura, Michela; Pezzani, Lidia; Selicorni, Angelo; Bedeschi, Maria Francesca; Tenconi, Romano; Agostoni, Carlo; Finelli, Palma; De Matteis, Sara; Di Fede, Elisabetta; Massa, Valentina; Pezzoli, Laura; Gervasini, Cristina; Iascone, Maria; Milani, Donatella

Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline

为患有(遗传性)智力障碍的青少年从儿童医疗保健过渡到成人医疗保健:ERN-ITHACA 指南

Klein Haneveld, Mirthe J; Świeczkowska, Katarzyna; Grybek, Tomasz; Labunets, Kinga; van Amelsvoort, Thérèse A M J; Bedeschi, Maria F; Behan, Claire; Dufke, Andreas; Dupont, Juliette; Gaasterland, Charlotte M W; Garavelli, Livia; Helverschou, Sissel B; McAnallen, Susan; Milska-Musa, Katarzyna A; van Staa, AnneLoes; Streață, Ioana; Stumpel, Connie T R M; Tamburrino, Federica; Vasseghi, Mary; Vyshka, Klea; Wierzba, Jolanta M; van Eeghen, Agnies M

Correction: Women in Surgery: An Analysis of Mental Health, Stress Perception and Resilience

更正:女性外科医生:心理健康、压力感知和韧性分析

Schmerler, Jessica; Gianakos, Arianna; Antón, Ana Fernanda; De Mattos, Camila Bedeschi Rego; LaPorte, Dawn; Modi, Kush; Sbaih, Omar; Sasaki, Jared; Koltenyuk, Victor; Gupta, Nithin; Patel, Hursch; Miller, James D; Agharia, Suzen; de Wet, Hannah; Di Bella, Claudia

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

The Spheroid Light Microscopy Image Atlas for morphometrical analysis of three-dimensional cell cultures

用于三维细胞培养形态计量分析的球状体光学显微镜图像图谱

Eva Blondeel ,Arne Peirsman ,Stephanie Vermeulen ,Filippo Piccinini ,Felix De Vuyst ,Diogo Estêvão ,Sayida Al-Jamei ,Martina Bedeschi ,Gastone Castellani ,Tânia Cruz ,Sándor Dedeyne ,Maria José Oliveira ,Satoru Kawakita ,Huu Tuan Nguyen ,Leoni A Kunz-Schughart ,Soojung Lee ,Noemi Marino ,Patrick Steigemann ,Shuichi Takayama ,Anna Tesei ,Nina Zablowsky ,Phillip Blondeel ,Olivier De Wever

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences

将沃索利肽疗法与肢体手术相结合治疗软骨发育不全患儿:真实案例

Allegri, Anna Elsa Maria; Bedeschi, Maria Francesca; Bocchi, Maria Beatrice; Camurri, Valentina; Gonfiantini, Michaela Veronika; Leoni, Chiara; Mariani, Milena; Palmacci, Osvaldo; Porro, Matteo; Riganti, Simone; Tedesco, Caterina; Rinaldi, Berardo; Scarano, Emanuela; Schiavariello, Concetta; Selicorni, Angelo; Stagi, Stefano; Verdoni, Fabio; Zampino, Giuseppe; Maghnie, Mohamad; Onesimo, Roberta

Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

产前外显子组测序:诊断价值何时才能达到临床实用性?

Carrer, Alessia; Crupano, Francesco Maria; Rinaldi, Berardo; Scuvera, Giulietta; Cesaretti, Claudia; Nicotra, Valeria; Gangi, Silvana; Colombo, Lorenzo; Araimo, Gabriella; Tagliabue, Matilde; Marchetti, Daniela; Pezzoli, Laura; Garzo, Maria; Accurti, Veronica; Volpe, Grazia; Boito, Simona; Finelli, Palma; Fumagalli, Monica; Bedeschi, Maria Francesca; Iascone, Maria; Persico, Nicola; Natacci, Federica

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases

儿童期发病罕见病诊断中一级与二级三联体全基因组测序的比较

Lucca, Camilla; Rosina, Erica; Pezzani, Lidia; Piazzolla, Daniela; Spaccini, Luigina; Scatigno, Agnese; Gasperini, Serena; Pezzoli, Laura; Cereda, Anna; Milani, Donatella; Cattaneo, Elisa; Cavallari, Ugo; Frigeni, Marco; Marchetti, Daniela; Daolio, Cecilia; Giordano, Laura; Bellini, Matteo; Goisis, Lucrezia; Mongodi, Chiara; Tonduti, Davide; Pilotta, Alba; Cazzaniga, Giovanni; Furlan, Francesca; Bedeschi, Maria Francesca; Mangili, Giovanna; Bonanomi, Ezio; Iascone, Maria

P18.22.B HUR-RNA COMPLEXES: EMERGING TARGETS FOR INNOVATIVE GLIOBLASTOMA THERAPEUTICS

P18.22.B HUR-RNA复合物:胶质母细胞瘤创新疗法的新兴靶点

Zaragoza, Michael V; Bui, Thuy-Anh; Widyastuti, Halida P; Mehrabi, Mehrsa; Cang, Zixuan; Sha, Yutong; Grosberg, Anna; Nie, Qing; Vaccari, M E; Bedeschi, M; Cavassi, E; Garbagnoli, M; Fontana, A; Marino, N; Rossino, G; Collina, S; Tesei, A