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

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

与脑小血管病和脑畸形相关的双等位基因COL4A2变异

Muhammad, Anees; Nosrati, Mohammad Sadegh Shams; Dostmohammadi, Alireza; Khorasanian, Reihaneh; Severino, Mariasavina; Doustmohammadi, Morteza; Madia, Francesca; Srivastava, Siddharth; Quinlan, Aisling; Paladini, Dario; Zara, Federico; Scala, Marcello

Further delineation of the SCAF4-associated neurodevelopmental disorder

进一步阐明SCAF4相关神经发育障碍

Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J M; Elshafie, Reem M; Alsharhan, Hind; Hillman, Paul R; Dunnington, Leslie A; Braakman, Hilde M H; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tümer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G; Abreu, Nicolas J; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

CDK13相关疾病:27例病例系列研究的新见解及临床管理建议

Contrò, Gianluca; Baroni, Maria Chiara; Caraffi, Stefano Giuseppe; Napoli, Manuela; Artuso, Rosangela; Giliberti, Annarita; Bargiacchi, Sara; Mancano, Giorgia; Traficante, Giovanna; Mucciolo, Mafalda; Radio, Francesca Clementina; Cordeddu, Viviana; Mancini, Cecilia; Bottillo, Irene; Pirro, Federica Anna; Bonati, Maria Teresa; Becker, Cord-Christian; Carli, Diana; Mussa, Alessandro; Gonzalez, Maria Isis Atallah; Ruiz-Arana, Inge Lore; Kumps, Camille; Maystadt, Isabelle; Moortgat, Stephanie; Peker, Alp; Piccione, Maria; Grammatico, Paola; Rostomashvili, Nino; Lévy, Jonathan; Scala, Marcello; Capra, Valeria; Torella, Annalaura; van Eyk, Clare; Isidor, Bertrand; Cogne, Benjamin; Srivastava, Siddharth; Quinlan, Aisling; Vaisfeld, Alessandro; Licchetta, Laura; Frattini, Daniele; Graziano, Claudio; Severi, Giulia; Bacchi, Isabelle; Soliani, Luca; Sherr, Elliott H; Argilli, Emanuela; Goel, Himanshu; De Luca, Chiara; Leonardi, Silvia; Brancati, Francesco; Faletra, Flavio; Mio, Catia; Braibanti, Silvia; Gargano, Giancarlo; Fusco, Carlo; Novelli, Antonio; Tartaglia, Marco; Garavelli, Livia

Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome

费兰-麦克德米德综合征中主动脉根部扩张与基因型的关联

Gluckman, Jake; Levy, Tess; Friedman, Kate; Garces, Francesca; Filip-Dhima, Rajna; Quinlan, Aisling; Iannotti, Isabelle; Pekar, Margaret; Hernandez, Alexandra Lopez; Nava, Madison T; Kravets, Elijah; Siegel, Abigail; Bernstein, Jonathan A; Berry-Kravis, Elizabeth; Powell, Craig M; Soorya, Latha Valluripalli; Thurm, Audrey; Srivastava, Siddharth; Buxbaum, Joseph D; Sahin, Mustafa; Kolevzon, Alexander; Gelb, Bruce D

Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

弗里德赖希共济失调和ALG1相关生化异常在进行性痉挛性截瘫患者中的病例报告

Quinlan Aisling, Rodan Lance, Barkoudah Elizabeth, Tam Amy, Saffari Afshin, Shammas Ibrahim, Ranatunga Wasantha, Morava-Kozicz Eva, Oglesbee Devin, Berry Gerald, Ebrahimi-Fakhari Darius, Srivastava Siddharth

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders

基因诊断在脑瘫及相关运动障碍患者中的临床应用价值

Santana Almansa, Alexandra; Gable, Dustin L; Frazier, Zoë; Sveden, Abigail; Quinlan, Aisling; Chopra, Maya; Lewis, Sara A; Kruer, Michael; Poduri, Annapurna; Srivastava, Siddharth

Quantifying patient preferences for symptomatic breast clinic referral: a decision analysis study

量化患者对症状性乳腺门诊转诊的偏好:一项决策分析研究

Quinlan, Aisling; O'Brien, Kirsty K; Galvin, Rose; Hardy, Colin; McDonnell, Ronan; Joyce, Doireann; McDowell, Ronald D; Aherne, Emma; Keogh, Claire; O'Sullivan, Katriona; Fahey, Tom