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

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

小核RNA基因RNU2-2的突变会导致严重的神经发育障碍,并伴有明显的癫痫症状。

Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Solà, Marta; Jensson, Brynjar O; Hales, Emma; Katrinecz, Andrea; Nieto Molina, Esther; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodríguez, Anna; Fernández Garoz, Bárbara; Foulds, Nicola; García-Navas Núñez, Deyanira; González Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G; Madrigal Bajo, Irene; Martinez-Monseny, Antonio F; McKee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodríguez-Revenga Bodi, Laia; Sariego Jamardo, Andrea; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Ángel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F; Barakat, Tahsin Stefan; O'Donoghue, Michael; Pérez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D; Turro, Ernest

[Social determinants of therapeutic adherence among users of the primary health care system's cardiovascular health program in ChileDeterminantes sociais da adesão terapêutica entre usuários do programa de saúde cardiovascular na atenção primária à saúde do Chile]

[智利初级卫生保健系统心血管健康计划使用者治疗依从性的社会决定因素Determinantes sociais da adesão terapêutica entre usuários do programa de saúde心血管na atenção primária à saúde do Chile]

Herrera Atton, Daniel; Olivi, Alessandra; Reyes Cabrera, Pablo; García Ubillo, Viviana; Veloz Baeza, Alejandro; Veintimilla Carrión, Keiko Sahori; Sánchez Lagos, Sebastián

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

EPHB4 相关疾病的两面性:新的致病变异和未报告的家庭内重叠表型

Silvia Martin-Almedina, Kazim Ogmen #, Ege Sackey #, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny Kortuem, Mary Beth Dinulos, Cassandra Polun, Sherri Bale, Giles Atton, Alexandra Robinson, Hallvard Reigstad, Gunnar Houge, Axel v

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

更正:与EPHB4相关的双重疾病:新的致病变异和未报道的家族内重叠表型

Martin-Almedina, Silvia; Ogmen, Kazim; Sackey, Ege; Grigoriadis, Dionysios; Karapouliou, Christina; Nadarajah, Noeline; Ebbing, Cathrine; Lord, Jenny; Mellis, Rhiannon; Kortuem, Fanny; Dinulos, Mary Beth; Polun, Cassandra; Bale, Sherri; Atton, Giles; Robinson, Alexandra; Reigstad, Hallvard; Houge, Gunnar; von der Wense, Axel; Becker, Wolf-Henning; Jeffery, Steve; Mortimer, Peter S; Gordon, Kristiana; Josephs, Katherine S; Robart, Sarah; Kilby, Mark D; Vallee, Stephanie; Gorski, Jerome L; Hempel, Maja; Berland, Siren; Mansour, Sahar; Ostergaard, Pia

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

EPHB4 激酶失活突变导致常染色体显性淋巴相关胎儿积水

Silvia Martin-Almedina, Ines Martinez-Corral, Rita Holdhus, Andres Vicente, Elisavet Fotiou, Shin Lin, Kjell Petersen, Michael A Simpson, Alexander Hoischen, Christian Gilissen, Heather Jeffery, Giles Atton, Christina Karapouliou, Glen Brice, Kristiana Gordon, John W Wiseman, Marianne Wedin, Stanley

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

PIEZO1 的新突变导致常染色体隐性全身淋巴发育不良,并伴有非免疫性胎儿积水

Elisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P Snyder, Stanley G Rockson, Steve Jeffery, Peter S Mortimer, Sahar Mansour, Pia Ostergaard

From fish to fashion: experimental and theoretical insights into the evolution of culture

从鱼类到时尚:文化演化的实验与理论见解

Laland, K N; Atton, N; Webster, M M

Habitat-specific morphological variation among threespine sticklebacks (Gasterosteus aculeatus) within a drainage basin

流域内三刺鱼(Gasterosteus aculeatus)栖息地特异性形态变异

Webster, Mike M; Atton, Nicola; Hart, Paul J B; Ward, Ashley J W

Crying wolf on drug safety

药物安全方面的“狼来了”式恐慌

Watney, P J; Atton, C; Harrison, Robert F; Ennis, Joseph; Brennan, Mary