Carmen Palma-Milla

6PUBLICATIONS
19CO-AUTHORS
Gene mappingFoetal development and medicineGene expression (incl. microarray and other genome-wide approaches)Cardiovascular medicine and haematology not elsewhere classifiedNeurology and neuromuscular diseases
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Publications (6)

|Oct 27, 2022
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban

|Sep 23, 2022
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López

|Apr 23, 2022
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Maria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa

|Apr 30, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Ana Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin

|Dec 11, 2020
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

Marta Moreno-García, Ana Rosa Arteche-López, María Isabel Álvarez-Mora

|Jul 18, 2018
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.

Carmen Palma Milla, José Miguel Lezana Rosales, Javier López Montiel

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Frequent Collaborators

3 joint publications

Jose Miguel Lezana-Rosales

3 joint publications

Irene Gómez-Manjón

3 joint publications

Maria Isabel Alvarez-Mora

2 joint publications

Maria Teresa Sánchez-Calvín