María Luisa Martínez‐Frías
Instituto de Salud Carlos III(ES)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Urological Disorders and Treatments, Congenital Anomalies and Fetal Surgery, Folate and B Vitamins Research
Most-Cited Works
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → The spectrum of congenital anomalies of the VATER association: An international study(1997)258 cited
- → Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome(2011)229 cited
- → Birth prevalence study of the apert syndrome(1992)215 cited
- → Epidemiological analysis of outcomes of pregnancy in diabetic mothers: Identification of the most characteristic and most frequent congenital anomalies(1994)197 cited
- → A Joint International Study on the Epidemiology of Hypospadias(1986)184 cited