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
S

Susana Balcells

University of Barcelona
H指数:34
被引数:4,890

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

Generation and Characterization of an Osteoclastic Cell Model of Gaucher’s Bone Disease

戈谢病骨病变的破骨细胞模型构建与表征

Calcified Tissue International
IF3.2
2026-10-010
OAAI
Juan-David Patiño-Salazar; Juan Diego Gutiérrez-Ávila; Sara Heredero-Jimenez; Eduardo Martín-Guerrero; Núria Martínez-Gil; Mónica Cozar; Diana Ovejero; Xavier Nogués; Laura Cinque; Juan A. Ardura; Arancha R. Gortazar; Daniel Grinberg; Susanna Balcells; Natalia Garcia-Giralt; Raquel Rabionet
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

扩大TRAF7-Related心脏，面部和数字异常的表型谱与发育迟缓: 11例新病例报告和文献复习

PEDIATRIC NEUROLOGY
IF2.1
2024-06-010
PRE
Palma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Monica; Sanchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cancho-Candela, Ramon; Vazquez-Lopez, Maria; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg, Daniel; Balcells, Susanna; Serrano, Mercedes; Rabionet, Raquel; Martin, Miguel A.; Urreizti, Roser
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Schaaf-yang综合征病理生理学的进展: 从床边到截短的MAGEL2的亚细胞分析

JOURNAL OF MEDICAL GENETICS
IF3.7
2022-09-075
OAAI
Castilla-Vallmanya, Laura; Centeno-Pla, Monica; Serrano, Mercedes; Franco-Valls, Hector; Martinez-Cabrera, Raul; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A. G.; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J.; Marfany, Gemma; Artuch, Rafael; Grinberg, Daniel; Rabionet, Raquel; Balcells, Susanna; Urreizti, Roser
Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques
FRONTIERS IN ENDOCRINOLOGY
IF4.6
2021-11-3016
OAAI
Rauner, Martina; Foessl, Ines; Formosa, Melissa M.; Kague, Erika; Prijatelj, Vid; Lopez, Nerea Alonso; Banerjee, Bodhisattwa; Bergen, Dylan; Busse, Bjoern; Calado, Angelo; Douni, Eleni; Gabet, Yankel; Giralt, Natalia Garcia; Grinberg, Daniel; Lovsin, Nika M.; Solan, Xavier Nogues; Ostanek, Barbara; Pavlos, Nathan J.; Rivadeneira, Fernando; Soldatovic, Ivan; van de Peppel, Jeroen; van der Eerden, Bram; van Hul, Wim; Balcells, Susanna; Marc, Janja; Reppe, Sjur; Soe, Kent; Karasik, David
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

与TRAF7种系变异相关的表型谱和转录组谱

GENETICS IN MEDICINE
IF6.2
2020-07-0124
OAAI
Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2020-02-1022
OAAI
Urreizti, Roser; Lopez-Martin, Estrella; Martinez-Monseny, Antonio; Pujadas, Montse; Castilla-Vallmanya, Laura; Perez-Jurado, Luis Alberto; Serrano, Mercedes; Natera-de Benito, Daniel; Martinez-Delgado, Beatriz; Posada-de-la-Paz, Manuel; Alonso, Javier; Marin-Reina, Purificacion; O'Callaghan, Mar; Grinberg, Daniel; Bermejo-Sanchez, Eva; Balcells, Susanna
Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types
JOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
2018-09-0526
OAAI
Roca-Ayats, Neus; Ng, Pei Ying; Garcia-Giralt, Natalia; Falco-Mascaro, Maite; Cozar, Monica; Francesc Abril, Josep; Quesada Gomez, Jose Manuel; Prieto-Alhambra, Daniel; Nogues, Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg, Daniel; Balcells, Susana; Diez-Perez, Adolfo

研究方向

暂未获取到该数据
D
Daniel Grinberg
H 指数:40论文数:258被引数:5,623
X
Xavier Nogués
H 指数:55论文数:385被引数:1.1万
N
Natalia García‐Giralt
H 指数:31论文数:167被引数:4,705
A
Adolfo Díez‐Pérez
H 指数:76论文数:509被引数:1.8万
L
Leonardo Mellibovsky
H 指数:26论文数:104被引数:2,359
R
Roser Urreizti
H 指数:22论文数:86被引数:2,366
M
Mariona Bustamante
H 指数:60论文数:373被引数:1.5万
N
Núria Martínez‐Gil
H 指数:9论文数:39被引数:221
P
Patricia Sarrión
H 指数:16论文数:32被引数:1,019
R
Raquel Rabionet
H 指数:60论文数:192被引数:2.9万