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Research Interests

Papers共 132 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Moderate to Severe Short Stature and Joint Involvement in Individuals with ACAN Deletions
Lucia Sentchordi-Montané, Francisca Díaz-Gonzalez, Silvia Modamio-Høybjør,Julián Nevado, Flavia Machado-Fernandes, Atilano Carcavilla, María Salcedo,Jorge Saraiva,Sarina G Kant, Christian de Bruin,Hermine A van Duyvenvoorde, Iris González-Cabaleiro, Lourdes Rey-Cordo, José Luis Chamorro-Martín, Vanesa Cancela-Muñiz, José Juan Alcón-Sáez, Manuel Parrón-Pajares,Sergio B Sousa,Karen E Heath
Clinical endocrinology (2025)
Cited0Views0WOSBibtex
0
0
Mutations in the Small Nuclear RNA Gene RNU2-2 Cause a Severe Neurodevelopmental Disorder with Prominent Epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Marta Codina-Solà,Brynjar O Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sonia Pascoal,Rolph Pfundt,Rachel Schot, Marta Sevilla Porras,Frank Sleutels,Irene Valenzuela,Robin Wijngaard, Ignacio Arroyo Carrera, Giles Atton, Didac Casas-Alba,Deirdre Donnelly, Anna Duat Rodríguez,Bárbara Fernández Garoz,Nicola Foulds, Deyanira García-Navas Núñez, Elena González Alguacil, Joanna Jarvis,Sarina G Kant, Irene Madrigal Bajo, Antonio F Martinez-Monseny,Shane McKee, Nelmar Valentina Ortiz Cabrera, Laia Rodríguez-Revenga Bodi, Andrea Sariego Jamardo,Kari Stefansson,Patrick Sulem,Mohnish Suri, Clara Van Karnebeek,Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo,Marc Engelen,Pablo Lapunzina, Natasha P Morgan,Beatriz Morte,Patrick Rump, Kathy Stirrups,Eduardo F Tizzano,Tahsin Stefan Barakat, Michael O'Donoghue,Luis Alberto Pérez-Jurado,Kathleen Freson,Andrew D Mumford,Ernest Turro
Nature genetics (2025)
Cited0Views0WOSNATUREBibtex
0
0
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Author Statistics

#Papers: 131

#Citation: 5216

H-Index: 40

G-Index: 70

Sociability: 8

Diversity: 3

Activity: 3

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  • 导师
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