María Palomares-Bralo
17PUBLICATIONS
54CO-AUTHORS
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Publications (17)
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|Jan 20, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.Laura Trujillano, Irene Valenzuela, Mar Costa-Roger
|Nov 14, 2024
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.Natalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra
|Aug 16, 2024
Loss-of-function of the Zinc Finger Homeobox 4 (<i>ZFHX4</i>) gene underlies a neurodevelopmental disorder.Pérez Baca María Del Rocío, María Palomares Bralo, Michiel Vanhooydonck
|Sep 28, 2023
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review.Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot
|Jul 02, 2022
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.Marta Pacio-Miguez, Manuel Parrón-Pajares, Christopher T Gordon
|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman
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Frequent Collaborators
6 joint publications
Fernando Santos-Simarro
4 joint publications
Pablo Lapunzina
4 joint publications
Mario Solís
3 joint publications
Jair Tenorio-Castano
3 joint publications
Marta Pacio-Míguez
2 joint publications
Karen E Heath
2 joint publications
Alejandro Parra
1 joint publications
Anna Ruiz
1 joint publications
Lucía Daniela Espeche
1 joint publications
Rubén Martín Arenas
