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Álvaro Martín-Rodríguez

3PUBLICATIONS
3CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Neonatology
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Journal

Publications (3)

Sort by Publication Date:
|Dec 29, 2025
KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.

Adriana Gomes, Álvaro Martín-Rodríguez, Miguel Del Campo

|Aug 13, 2025
MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.

Adriana Gomes, Álvaro Martín-Rodríguez, Neil M Shah

|Aug 07, 2025
Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.

Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez

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Frequent Collaborators

3 joint publications

Adriana Gomes

3 joint publications

Lynne M Bird

1 joint publications

Li Hong

Frequent Collaborators

3 joint publications

Adriana Gomes

3 joint publications

Lynne M Bird

1 joint publications

Li Hong

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