Concepedia

Isabel Lorda‐Sánchez

IL

49

Publications

2.3K

Citations

28

H-Index

1991

Active since

Affiliations

Hospital Universitario Fundación Jiménez Díaz(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universidad Autónoma de Madrid

University of Zurich

Isabel Lorda‐Sánchez is an author at Hospital Universitario Fundación Jiménez Díaz specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

1991–2022

49

Publications

49

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 154 citations · Full text

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach

Dan Diego‐Álvarez, Carmen Ramos-Corrales, Maria García‐Hoyos et al. · Human Reproduction · 2005 · 144 citations · Full text

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

María González‐González, M García-Hoyos, M.J. Trujillo et al. · Prenatal Diagnosis · 2002 · 143 citations

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection

Wendy P. Robinson, Franz Binkert, Isabel Lorda‐Sánchez et al. · Zurich Open Repository and Archive (University of Zurich) · 1995 · 126 citations · Full text

MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages

Dan Diego‐Álvarez, Marta Rodríguez de Alba, Rocio Cardero‐Merlo et al. · Prenatal Diagnosis · 2007 · 116 citations

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