Julián Nevado

22PUBLICATIONS
224CO-AUTHORS
Photonics, optoelectronics and optical communicationsNeurogeneticsGenomicsEpigenetics (incl. genome methylation and epigenomics)Medical bacteriology
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Publications (22)

|Aug 10, 2026
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

|Mar 23, 2026
A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.

Tomás Valle, Alejandra Damián, Marta Torres

|Feb 27, 2026
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Paloma Lapunzina-Soler, Amir Shabaka, Ramón Peces

|Jan 23, 2026
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.

Jair Tenorio-Castano, Marta Feito, Raúl de Lucas

|Nov 27, 2025
Epilepsy in Wolf-Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature.

Raquel Blanco-Lago, Ignacio Málaga, Jair Antonio Tenorio-Castaño

|Sep 30, 2025
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Elsa Lucas-Castro, Francisca Diaz-González, Silvia Modamio-Høybjor

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Frequent Collaborators

14 joint publications

Pablo Lapunzina

11 joint publications

Jair Tenorio-Castano

4 joint publications

Fe García Santiago

3 joint publications

Tomás Valle