Nuria Puente - Publications

A Family with Meester-Loeys Syndrome Caused by a Novel Missense Variant in the BGN Gene.

Journal: International journal of molecular sciences

Published: November 20, 2025

Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: March 02, 2025

Genetic causes of hypophosphatemia.

Journal: Minerva medica

Published: May 10, 2024

Mild Hypophosphatemia-Associated Conditions in Children: The Need for a Comprehensive Approach.

Journal: International journal of molecular sciences

Published: December 04, 2022

Expanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36.

Journal: International journal of molecular sciences

Published: November 16, 2022

Oropharyngeal persistence of SARS-CoV-2: Influence of viral load.

Journal: Medicina clinica (English ed.)

Published: May 09, 2022

Alkaptonuria: Response to low-dose nitisinone in two patients with a new mutation

Journal: Medicina clinica

Published: May 06, 2022

An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: April 25, 2022

Oropharyngeal persistence of SARS-CoV-2: Influence of viral load

Journal: Medicina clinica

Published: August 05, 2021

Influence of weather factors on the incidence of COVID-19 in Spain.

Journal: Medicina clinica

Published: June 03, 2021

Influence of weather factors on the incidence of COVID-19 in Spain.

Journal: Medicina clinica (English ed.)

Published: June 03, 2021