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研究兴趣

论文共 119 篇作者统计合作学者相似作者

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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies with Developmental Delay: Report of 11 New Cases and Literature Review
Carmen Palma-Milla,Aina Prat-Planas, Emma Soengas-Gonda,Monica Centeno-Pla, Jaime Sanchez-Pozo, Irene Lazaro-Rodriguez,Juan F. Quesada-Espinosa,Ana Arteche-Lopez, Jonathan Olival,Marta Pacio-Miguez,Maria Palomares-Bralo, Fernando Santos-Simarro,Ramon Cancho-Candela, Maria Vazquez-Lopez,Veronica Seidel, Antonio F. Martinez-Monseny,Didac Casas-Alba,Daniel Grinberg,Susanna Balcells,Mercedes Serrano,Raquel Rabionet, Miguel A. Martin, Roser Urreizti
PEDIATRIC NEUROLOGY (2024): 8-17
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Developmental Outcome of Electroencephalographic Findings in SYNGAP1 Encephalopathy
Juliana Ribeiro-Constante,Alba Tristan-Noguero, Fernando Francisco Martinez Calvo,Salvador Ibanez-Mico,Jose Luis Pena Segura,Jose Miguel Ramos-Fernandez, Maria del Carmen Moyano Chicano, Rafael Camino Leon,Victor Soto Insuga,Elena Gonzalez Alguacil, Carlos Valera Davila, Alberto Fernandez-Jaen, Laura Plans,Ana Camacho,Nuria Visa-Rene, Maria del Pilar Martin-Tamayo Blazquez,Fernando Paredes-Carmona,Itxaso Marti-Carrera, Aranzazu Hernandez-Fabian, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez,Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, Maria Rosario Cazorla, Maria Teresa Ferrando Lucas,Antonio Gonzalez-Meneses,Julia Sala-Coromina,Alfons Macaya,Amaia Lasa-Aranzasti,Anna Ma Cueto-Gonzalez, Francisca Valera Parraga,Jaume Campistol Plana,Mercedes Serrano,Xenia Alonso,Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofia Illescas,Alia Ramirez Camacho,Oscar Sans Capdevila,Angeles Garcia-Cazorla,Alex Bayes,Itziar Alonso-Colmenero
Frontiers in cell and developmental biology (2024)
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A Plasma MicroRNA Signature for Early Detection of Paediatric Cerebellar Atrophy Caused by PMM2-CDG
L. Cabus, S. Belmonte,C. Hernando-Davalillo, A. Alcalá, P. Fernández-Pareja, J. Curado,J. Lagarde,G. Nolasco,M. Serrano,J. Perez-Boza
The Journal of Liquid Biopsy (2023): 100018
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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype
Monica Roldan, Gregorio Alexander Nolasco,Lluis Armengol, Marcos Frias,Marta Morell,Manel Garcia-Aragones, Florencia Epifani,Jordi Muchart, Maria Luisa Ramirez-Almaraz,Loreto Martorell,Cristina Hernando-Davalillo,Roser Urreizti,Mercedes Serrano
International journal of molecular sciencesno. 18 (2023): 13699-13699
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Untangling Adaptive Functioning of PMM2-CDG Across Age and Its Impact on Parental Stress: a Cross-Sectional Study
Florencia Epifani,Susana Maria Pujol Serra,Marta Llorens, Sol Balcells, Gregorio Nolasco,Merce Bolasell,Sergio Aguilera-Albesa,Ramon Cancho Candela, Jose Luis Cuevas Cervera, Veronica Garcia Sanchez,Oscar Garcia,Maria Concepcion Miranda-Herrero, Pedro J. Moreno-Lozano,Bernabe Robles, Susana Roldan Aparicio,Ramon Velazquez Fragua,Mercedes Serrano
SCIENTIFIC REPORTSno. 1 (2023)
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作者统计

#Papers: 118

#Citation: 1955

H-Index: 28

G-Index: 38

Sociability: 7

Diversity: 3

Activity: 16

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