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

MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis

MINDDS-connect:一个整合生物样本库的联邦数据平台,用于构建和分析元队列

Huremagic, Benjamin; Sattanathan, Nishkala; Geysens, Mathilde; Harwood, Janet; Verbesselt, Jente; Meynants, Senne; Swillen, Ann; Van Den Bogaert, Kris; Drakulic, Danijela; Cuturilo, Goran; van Amelsvoort, Thérèse; Linden, David; Oliva-Teles, Natália; Jorge, Paula; van den Bree, Marianne B M; Hall, Jessica H; Chizari, Haleh; Ardeshirdavani, Amin; Harwood, Adrian J; Vandeweyer, Geert; Moreau, Yves; Vermeesch, Joris Robert

Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion

22q11.2微缺失儿童的语音产生、叙事能力和语言记忆

Rakonjac, Marijana; Cuturilo, Goran; Kovacevic-Grujicic, Natasa; Simeunovic, Ivana; Kostic, Jovana; Stevanovic, Milena; Drakulic, Danijela

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

南欧和东欧国家粘多糖贮积症的概况:来自19个专科中心的调查

Tylki-Szymańska, Anna; Almássy, Zsuzsanna; Christophidou-Anastasiadou, Violetta; Avdjieva-Tzavella, Daniela; Barisic, Ingeborg; Cerkauskiene, Rimante; Cuturilo, Goran; Djiordjevic, Maja; Gucev, Zoran; Hlavata, Anna; Kieć-Wilk, Beata; Magner, Martin; Pecin, Ivan; Plaiasu, Vasilica; Samardzic, Mira; Zafeiriou, Dimitrios; Zaganas, Ioannis; Lampe, Christina

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

以遗传学为先导的方法来剖析自闭症的异质性:自闭症风险拷贝数变异的表型比较

Chawner, Samuel J R A; Doherty, Joanne L; Anney, Richard J L; Antshel, Kevin M; Bearden, Carrie E; Bernier, Raphael; Chung, Wendy K; Clements, Caitlin C; Curran, Sarah R; Cuturilo, Goran; Fiksinski, Ania M; Gallagher, Louise; Goin-Kochel, Robin P; Gur, Raquel E; Hanson, Ellen; Jacquemont, Sebastien; Kates, Wendy R; Kushan, Leila; Maillard, Anne M; McDonald-McGinn, Donna M; Mihaljevic, Marina; Miller, Judith S; Moss, Hayley; Pejovic-Milovancevic, Milica; Schultz, Robert T; Green-Snyder, LeeAnne; Vorstman, Jacob A; Wenger, Tara L; Hall, Jeremy; Owen, Michael J; van den Bree, Marianne B M

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

需要重新评估A2ML1变异在努南综合征中的临床意义。

Brinkmann, Julia; Lissewski, Christina; Pinna, Valentina; Vial, Yoann; Pantaleoni, Francesca; Lepri, Francesca; Daniele, Paola; Burnyte, Birute; Cuturilo, Goran; Fauth, Christine; Gezdirici, Alper; Kotzot, Dieter; Güleç, Elif Yılmaz; Iotova, Violeta; Schanze, Denny; Ramond, Francis; Havlovicová, Markéta; Utine, Gulen Eda; Simsek-Kiper, Pelin Ozlem; Stoyanova, Milena; Verloes, Alain; De Luca, Alessandro; Tartaglia, Marco; Cavé, Hélène; Zenker, Martin

Mowat-Wilson syndrome: growth charts

莫瓦特-威尔逊综合征:生长曲线图

Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; Accorsi, Patrizia; Adam, Margaret P; Avela, Kristina; Badura-Stronka, Magdalena; Bayat, Allan; Clayton-Smith, Jill; Cocco, Isabella; Cordelli, Duccio Maria; Cuturilo, Goran; Di Pisa, Veronica; Dupont Garcia, Juliette; Gastaldi, Roberto; Giordano, Lucio; Guala, Andrea; Hoei-Hansen, Christina; Inaba, Mie; Iodice, Alessandro; Nielsen, Jens Erik Klint; Kuburovic, Vladimir; Lazalde-Medina, Brissia; Malbora, Baris; Mizuno, Seiji; Moldovan, Oana; Møller, Rikke S; Muschke, Petra; Otelli, Valeria; Pantaleoni, Chiara; Piscopo, Carmelo; Poch-Olive, Maria Luisa; Prpic, Igor; Marín Reina, Purificación; Raviglione, Federico; Ricci, Emilia; Scarano, Emanuela; Simonte, Graziella; Smigiel, Robert; Tanteles, George; Tarani, Luigi; Trimouille, Aurelien; Valera, Elvis Terci; Schrier Vergano, Samantha; Writzl, Karin; Callewaert, Bert; Savasta, Salvatore; Street, Maria Elisabeth; Iughetti, Lorenzo; Bernasconi, Sergio; Giorgi Rossi, Paolo; Garavelli, Livia

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

RRAS2 激活突变是努南综合征的罕见病因

Capri, Yline; Flex, Elisabetta; Krumbach, Oliver H F; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei Adariani, Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette; Pantaleoni, Francesca; Lepri, Francesca R; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Cuturilo, Goran; Kazemein Jasemi, Neda S; Dvorsky, Radovan; Monaghan, Kristin G; Vincent, Lisa M; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R; Tartaglia, Marco; Zenker, Martin

Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings

耳腭指综合征I型:两兄妹的新特征和产前表现

Joksic, I; Cuturilo, G; Jurisic, A; Djuricic, S; Peterlin, B; Mijovic, M; Karadzov, Orlic N; Egic, A; Milovanovic, Z

PITX2 deficiency and associated human disease: insights from the zebrafish model

PITX2 缺乏症和相关人类疾病:来自斑马鱼模型的见解

Kathryn E Hendee, Elena A Sorokina, Sanaa S Muheisen, Linda M Reis, Rebecca C Tyler, Vujica Markovic, Goran Cuturilo, Brian A Link, Elena V Semina