Isabelle Perthus
Chamalieres-sur-loire, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications
Sirenomelia: A Review of European Prevalence Data and Epidemiological Analysis of 17 Cases Registered in Wales.
Journal: Birth defects research
Published: December 18, 2025
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.
Journal: Pediatric cardiology
Published: August 02, 2025
The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy.
Journal: Pharmacoepidemiology and drug safety
Published: July 29, 2025
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network.
Journal: Paediatric and perinatal epidemiology
Published: June 04, 2025
Antiretroviral drug exposure in pregnancy and risk of congenital anomalies: a European case/non-case malformed study.
Journal: European journal of clinical pharmacology
Published: September 13, 2024
Risk of Congenital Ocular Anomaly After Prenatal Exposure to Medications: A EUROmediCAT Study.
Journal: Birth defects research
Published: June 13, 2024
Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study.
Journal: Birth defects research
Published: May 27, 2024
A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.
Journal: European journal of epidemiology
Published: November 14, 2023
Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.
Journal: Diagnostics (Basel, Switzerland)
Published: October 31, 2023
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Journal: Journal of medical genetics
Published: April 12, 2023
Optical genome mapping for prenatal diagnosis: A prospective study.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: March 08, 2023
Surveillance of multiple congenital anomalies; searching for new associations.
Journal: European journal of human genetics : EJHG
Published: February 08, 2023
Last Updated: 09/26/2026