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Carmen Palma Milla (Carmen Palma-Milla)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 6

Top Venues

Genes

American journal of medical genetics. Part A

International journal of molecular sciences

Annals of human genetics

Hospital Universitario Alava-Txagorritxu

Universidad Autónoma de Madrid (MSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hospital Universitario Alava-Txagorritxu Sep 20o 2017 - Apr 24o 2018

Spain

Facultativo Adjunto de Genética :: Unidad de Genética - Análisis Clínicos

Education History

Universidad Autónoma de Madrid

Spain

MSC :: Epidemiología y Estadística

Publications

Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, Maria Teresa Sánchez-Calvín, Juan Francisco Quesada-Espinosa, Irene Gomez-Manjon, Carmen Palma Milla, Jose Miguel Lezana Rosales, Rubén Pérez de la Fuente, Maria-Luisa Martin-Ramos, Manuela Fernández-Guijarro, Marta Moreno-García, Maria Isabel Alvarez-Mora
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review. Genes 13 (9) (2022)
Maria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, Ana Rosa Arteche-Lopez, Sara Llamas-Velasco, Carmen Palma Milla, Jose Miguel Lezana Rosales, Irene Gomez-Manjon, Aurelio Hernandez-Lain, Justino Jimenez Almonacid, Belén Gil-Fournier, Soraya Ramiro-León, Marta González-Sánchez, Alejandro Octavio Herrero-San Martín, David Andrés Pérez-Martínez, Estrella Gómez-Tortosa, Eva Carro, Fernando Bartolomé, Maria Jose Gomez-Rodriguez, María Teresa Sanchez-Calvin, Alberto Villarejo-Galende, Marta Moreno-Garcia
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings. International journal of molecular sciences 23 (8) (2022)
Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez-Encinar, Juan C Rubio, Carmen Palma Milla, Joaquín Arenas, Miguel Angel Martin
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI). Genes 13 (10) (2022)
Ana Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez-Calvín, Juan Francisco Quesada-Espinosa, Jose Miguel Lezana Rosales, Carmen Palma Milla, Irene Gomez-Manjon, Irene Hidalgo Mayoral, Rubén Pérez de la Fuente, Arancha Díaz de Bustamante, María Teresa Darnaude, Belén Gil-Fournier, Soraya Ramiro León, Patricia Ramos Gómez, Olalla Sierra Tomillo, Alexandra Juárez Rufián, Maria Isabel Arranz Cano, Rebeca Villares Alonso, Pablo Morales-Pérez, Alejandro Segura-Tudela, Ana Camacho, Noemí Nuñez, Rogelio Simón, Marta Moreno-García, Maria Isabel Alvarez-Mora
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test. Genes 12 (4) (2021)
Marta Moreno-García, Ana Rosa Arteche-López, María Isabel Álvarez-Mora, Carmen Palma Milla, Juan Francisco Quesada Espinosa, José Miguel Lezana Rosales, María Teresa Sánchez Calvín, Irene Gómez Manjón, María José Gómez Rodríguez, Antonio Mendez-Guerrero, Alberto Villarejo-Galende
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection. American journal of medical genetics. Part A 185 (2) (2020)
Carmen Palma Milla, José Miguel Lezana Rosales, Javier López Montiel, Lucas David Andrés Garrido, Carlos Sánchez Linares, Sandra Carmona Tamajón, Carmen Torres Fernández, Pablo Sánchez González, Sara Franco Freire, Carmen Benito López, Juan López Siles
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients. Annals of human genetics 82 (6) (2018)

Carmen Palma Milla.css-eqlu8i{font-size:small;padding-left:4px;} (Carmen Palma-Milla)

Publication Activity (10 Years)

Top Topics

Top Venues

Carmen Palma Milla (Carmen Palma-Milla)