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

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

对与伴有或不伴有癫痫的神经发育障碍相关的HCN1变异体进行全面分类

Castelli, Roberta; Marini, Carla; Porro, Alessandro; Castellini, Anna; Fontana, Greta; Saponaro, Andrea; Cavalleri, Gianpiero; Rizzi, Susanna; Fusco, Carlo; Parida, Amitav; Caswell, Richard; Sherlaw, Charlotte; Pruna, Dario; Reid, Chris; Bleakley, Lauren E; Howell, Katherine B; Sheffer, Ingrid; Cuddapah, Vishnu Anad; Zeidler, Shimriet; Pavlidis, Elena; Pal, Deb; Szczałuba, Krzysztof; Mirzaa, Ghayda; Couque, Nathalie; Capri, Yline; Faivre, Laurence; Mau-Them, Frederic Tran; Sirchia, Fabio; Korff, Christian M; DiFrancesco, Dario; Thiel, Gerhard; Depienne, Christel; Santoro, Bina; Moroni, Anna

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly

剪接体基因SNW1的突变会导致伴有小头畸形的神经发育障碍

Ji, Lei; Yan, Jin; Losurdo, Nicole A; Wang, Hua; Liu, Liangjie; Li, Keyi; Liu, Zhen; Guo, Zhenming; Xu, Jing; Bibo, Adriana; Ren, Decheng; Yang, Ke; Luo, Yingying; Yang, Fengping; Wang, Gui; Xiang, Zhenglong; Wang, Yuan; Zhan, Huaizhe; Pan, Hu; Hu, Juanli; Zhong, Jianmin; Abou Jamra, Rami; Zacher, Pia; Musante, Luciana; Faletra, Flavio; Costa, Paola; Zanus, Caterina; Couque, Nathalie; Ruaud, Lyse; Cueto-González, Anna M; San Nicolas Fernández, Hector; Tizzano, Eduardo; Martinez Gil, Nuria; Liu, Xiaorong; Liao, Weiping; Abi Farraj, Layal; Huang, Alden Y; Zhang, Liying; Murali, Aparna; Schmuel, Esther; Han, Christina S; King, Kayla; Gu, Weiyue; Wang, Pengchao; Li, Kai; Link, Nichole; He, Guang; Bian, Shan; Mao, Xiao

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

Reliability of Composite Autonomic Symptom Score (COMPASS)-31 in Congenital Central Hypoventilation Syndrome

先天性中枢性低通气综合征中复合自主神经症状评分(COMPASS)-31的可靠性

Dudoignon, Benjamin; Bokov, Plamen; Benterki, Fatima; Couque, Nathalie; Rand, Casey M; Weese-Mayer, Debra E; Delclaux, Christophe

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

KCNH5 电压感应和孔道结构域错义变异个体的神经发育和癫痫表型

Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia D; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedláčková, Lucie; Štěrbová, Katalin; Vlčková, Markéta; Laššuthová, Petra; Jahodová, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E; Mefford, Heather C; Carvill, Gemma L

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

SETD2变异患者的临床异质性和不同表型:18例新病例及文献回顾

Parra, Alejandro; Rabin, Rachel; Pappas, John; Pascual, Patricia; Cazalla, Mario; Arias, Pedro; Gallego-Zazo, Natalia; Santana, Alfredo; Arroyo, Ignacio; Artigas, Mercè; Pachajoa, Harry; Alanay, Yasemin; Akgun-Dogan, Ozlem; Ruaud, Lyse; Couque, Nathalie; Levy, Jonathan; Porras-Hurtado, Gloria Liliana; Santos-Simarro, Fernando; Ballesta-Martinez, Maria Juliana; Guillén-Navarro, Encarna; Muñoz-Hernández, Hugo; Nevado, Julián; Spanish OverGrowth Registry Initiative; Tenorio-Castano, Jair; Lapunzina, Pablo

Elaboration and Characterization of WMoTaNb High Entropy Alloy Prepared by Powder Metallurgy Processes

采用粉末冶金工艺制备WMoTaNb高熵合金的制备及表征

Moser, Mathias; Dine, Sarah; Vrel, Dominique; Perrière, Loïc; Pirès-Brazuna, Rémy; Couque, Hervé; Bernard, Frédéric

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

PTCHD1 中的新错义突变改变了其质膜亚细胞定位并导致智力障碍和自闭症谱系障碍

Judith Halewa, Sylviane Marouillat, Manon Dixneuf, Rose-Anne Thépault, Dévina C Ung, Nicolas Chatron, Bénédicte Gérard, Jamal Ghoumid, Gaëtan Lesca, Marianne Till, Thomas Smol, Nathalie Couque, Lyse Ruaud, Valérie Chune, Sarah Grotto, Alain Verloes, Marie-Laure Vuillaume, Annick Toutain, Martine Ray

Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer

红细胞膜疾病诊断工具:新一代红细胞变形仪的评估

Da Costa, Lydie; Suner, Ludovic; Galimand, Julie; Bonnel, Amandine; Pascreau, Tiffany; Couque, Nathalie; Fenneteau, Odile; Mohandas, Narla

Prevalence of hemoglobin variants in a diabetic population at high risk of hemoglobinopathies and optimization of HbA1c monitoring by incorporating HPLC in the laboratory workup

糖尿病高危人群中血红蛋白变异体的患病率及通过在实验室检测中引入高效液相色谱法优化HbA1c监测

Bouzid, Kahena; Ahmed, Habib B; Kalai, Eya; Blibeche, Salma; Couque, Nathalie; Khiari, Karima; Bahlous, Afef; Abdelmoula, Jaouida