María‐Luisa Martínez‐Fernández

Statistics

Publications

Citations

216

H-Index

Active since

2006

Affiliations

Universidad Autónoma de Madrid(Current)

Instituto de Salud Carlos III

Spanish Clinical Research Network

María‐Luisa Martínez‐Fernández is an author at Universidad Autónoma de Madrid specializing in congenital disorders, congenital disorder epidemiology, and maternal age effects.

Publications per year

2006–2019

Publications

Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis

Nitin Goel, Joan K. Morris, David Tucker et al. · American Journal of Medical Genetics Part A · 2019 · 129 citations · Full text

Public Health, Maternal Health, Obstetrics +15

Maternal polymorphisms 677C‐T and 1298A‐C of MTHFR, and 66A‐G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

María‐Luisa Martínez‐Frías, Belén Pérez, Lourdes R. Desviat et al. · American Journal of Medical Genetics Part A · 2006 · 77 citations

Life Sciences, Genetics, Molecular Genetics +16

Heterozygous pathogenic variants in<i>GLI1</i>are a common finding in isolated postaxial polydactyly A/B

Adrián Palencia‐Campos, María‐Luisa Martínez‐Fernández, Umut Altunoğlu et al. · Human Mutation · 2019 · 10 citations

Life Sciences, Genetics, Molecular Genetics +16

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