logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
V

Valentina Vélez-Santamaría

neuromuscular unit, neurology department, bellvitge university hospital-idibell, l’hospitalet de llobregat, barcelona, spain
H指数:15
被引数:6,204

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异导致一种复杂的神经发育障碍

The American Journal of Human Genetics
IF0
2026-04-030
PRE
Laura Planas-Serra; Mar Rodríguez-Ruiz; Eric Nathaniel Anderson; Agustí Rodríguez-Palmero; Valentina Vélez-Santamaria; Agatha Schlüter; Edgard Verdura; Gorka Gereñu; Andrés Jiménez-Zúñiga; Alejandro Iñañez; Josefina Casas; Joan Josep Bech; Tatiani Brenelli De Lima; Carolina De La Torre; Juan José Martínez; Montserrat Ruiz; Stéphane Fourcade; Maria Iascone; Romano Tenconi; Kolja Meier
Efficacy and safety of patisiran for the treatment of acquired amyloid polyneuropathy in domino liver transplant recipients

帕西兰治疗多米诺肝移植受者获得性淀粉样变性多神经病变的疗效与安全性

Therapeutic Advances in Neurological Disorders
IF4.1
2025-12-100
OA
Velina Nedkova-Hristova; Laura Donadeu; Carmen Baliellas; José González-Costello; Laura Lladó; Emma González-Vilatarsana; Miosés Morales de la Prida; Valentina Vélez-Santamaría; Oriol Bestard; Carlos Casasnovas
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异导致一种复杂的神经发育障碍

The American Journal of Human Genetics
IF0
2025-10-220
PRE
Laura Planas-Serra; Mar Rodríguez-Ruiz; Eric Nathaniel Anderson; Agustí Rodríguez-Palmero; Valentina Vélez-Santamaria; Agatha Schlüter; Edgard Verdura; Gorka Gereñu; Andrés Jiménez-Zúñiga; Alejandro Iñañez; Josefina Casas; Joan Josep Bech; Carolina De La Torre; Juan José Martínez; Montserrat Ruiz; Stéphane Fourcade; Maria Iascone; Romano Tenconi; Kolja Meier; Susann Diegmann; Reagan H.C. Lee; Bakht Beland; Asif Mir; Hossein Darvish; Wendy Chung; Ehsan Ghayoor Karimiani; Suzanne M. Leal; Isabelle Schrauwen; Susanna Öhman; Irma Järvelä; Johanna Granvik; Karit Reinson; Elvira Kurvinen; Katrin Õunap; Annemarie Schwan; Konrad Platzer; Tuğba Kalayci; Shahrashoub Sharifi; G. Christoph Korenke; Henry Houlden; Reza Maroofian; Adolfo López de Munaín; Carlos Casasnovas; Udai Bhan Pandey; Aurora Pujol
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy

SLC35B2中的双等位基因变体引起了一种新的软骨发育不良，并伴有髓性脑白质营养不良

BRAIN
IF11.7
2022-03-244
OA
Guasto, Alessandra; Dubail, Johanne; Aguilera-Albesa, Sergio; Paganini, Chiara; Vanhulle, Catherine; Haouari, Walid; Gorria-Redondo, Nerea; Aznal-Sainz, Elena; Boddaert, Nathalie; Planas-Serra, Laura; Schluter, Agatha; Velez-Santamaria, Valentina; Verdura, Edgard; Bruneel, Arnaud; Rossi, Antonio; Huber, Celine; Pujol, Aurora; Cormier-Daire, Valerie
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
NEUROLOGY
IF8.5
2022-03-0113
OAAI
Schluter, Agatha; Rodriguez-Palmero, Agusti; Verdura, Edgard; Velez-Santamaria, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas-Serra, Laura; Jose Martinez, Juan; Guilera, Cristina; Giros, Marisa; Artuch, Rafael; Yoldi, Maria Eugenia; O'Callaghan, Mar; Garcia-Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragon Rezola, Elisabet; Redin, Claire; Louis Mandel, Jean; Conejo, David; Sierra-Corcoles, Concepcion; Beltran, Sergi; Gut, Marta; Vazquez, Elida; Del Toro, Mireia; Troncoso, Monica; Perez-Jurado, Luis A.; Gutierrez-Solana, Luis G.; Lopez de Munain, Adolfo; Casasnovas, Carlos; Aguilera-Albesa, Sergio; Macaya, Alfons; Pujol, Aurora
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

双等位基因PI4KA变体引起一种新的神经发育综合征，伴有低髓性脑白质营养不良

BRAIN
IF11.7
2021-08-2026
OAAI
Verdura, Edgard; Rodriguez-Palmero, Agusti; Velez-Santamaria, Valentina; Planas-Serra, Laura; de la Calle, Irene; Raspall-Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O'Leary, Melanie; O'Heir, Emily; Barredo, Estibaliz; Chacon, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schluter, Agatha; Rouvet, Isabelle; Sala-Coromina, Julia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marce-Grau, Anna; de Souza, Precilla; Adams, David R.; Casasnovas, Carlos; Rehm, Heidi L.; Mefford, Heather C.; Gonzalez Gutierrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora
Epigenome-wide association study of COVID-19 severity with respiratory failure

新型冠状病毒肺炎严重程度与呼吸衰竭的表观基因组关联研究

EBIOMEDICINE
IF10.8
2021-04-0191
OAAI
Castro de Moura, Manuel; Davalos, Veronica; Planas-Serra, Laura; Alvarez-Errico, Damiana; Arribas, Carles; Ruiz, Montserrat; Aguilera-Albesa, Sergio; Troya, Jesus; Valencia-Ramos, Juan; Velez-Santamaria, Valentina; Rodriguez-Palmero, Agusti; Villar-Garcia, Judit; Horcajada, Juan P.; Albu, Sergiu; Casasnovas, Carlos; Rull, Anna; Reverte, Laia; Dietl, Beatriz; Dalmau, David; Arranz, Maria J.; Llucia-Carol, Laia; Planas, Anna M.; Perez-Tur, Jordi; Fernandez-Cadenas, Israel; Villares, Paula; Tenorio, Jair; Colobran, Roger; Martin-Nalda, Andrea; Soler-Palacin, Pere; Vidal, Francesc; Pujol, Aurora; Esteller, Manel

研究方向

暂未获取到该数据
C
Carlos Casasnovas
H 指数:31论文数:102被引数:7,976
A
Agatha Schlüter
H 指数:38论文数:95被引数:1.1万
E
Edgard Verdura
H 指数:17论文数:45被引数:1,127
A
Aurora Pujol
H 指数:64论文数:233被引数:2.3万
L
Laura Planas‐Serra
H 指数:21论文数:39被引数:7,349
M
Montserrat Ruíz
H 指数:32论文数:101被引数:3,096
S
Stéphane Fourcade
H 指数:32论文数:64被引数:2,692
A
Agustí Rodríguez‐Palmero
H 指数:22论文数:53被引数:6,844
S
Sergio Aguilera
H 指数:38论文数:251被引数:1.1万
M
Maria Iascone
H 指数:35论文数:253被引数:4,004