Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012.

Prevention of Neural Tube Defects in Europe: A Public Health Failure.

Primary prevention as an essential factor ensuring sustainability of health systems: the example of congenital anomalies.

SpainUDP: The Spanish Undiagnosed Rare Diseases Program

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum