Elena Ramos-Trujillo

3PUBLICATIONS
7CO-AUTHORS
NeonatologyEpigenetics (incl. genome methylation and epigenomics)Medical biochemistry - inorganic elements and compounds
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Publications (3)

|Sep 13, 2025
Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.

Glorián Mura-Escorche, Leire C García-Suarez, Isis Lebredo-Álvarez

|May 13, 2023
Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).

Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias

|Sep 02, 2020
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Alejandro García-Castaño, Ana Perdomo-Ramirez, Mònica Vall-Palomar

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Frequent Collaborators

3 joint publications

Felix Claverie-Martin

2 joint publications

Ana Perdomo-Ramirez

1 joint publications

Alejandro García-Castaño

1 joint publications

Mònica Vall-Palomar