Laura Toledo

Statistics

Publications

Citations

223

H-Index

Active since

2008

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Complejo Hospitalario Universitario de Santiago

Hospital Universitario Insular de Gran Canaria

Centro de Biología Molecular Severo Ochoa

Centro de Investigación Biomédica en Red

Laura Toledo is an author at Centre for Biomedical Network Research on Rare Diseases specializing in genetics, medical genetics, and molecular genetics.

Publications per year

2008–2020

Publications

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

Celia Medrano, Ana Vega, Rosa Navarrete et al. · Clinical Genetics · 2019 · 42 citations

Life Sciences, Genetics, Molecular Genetics +15

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Ivon Cuscó, Miguel Del Campo, Mireia Vilardell et al. · BMC Medical Genetics · 2008 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

Irene Bravo‐Alonso, Rosa Navarrete, Ana Vega et al. · Journal of Clinical Medicine · 2019 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome

Maria Vanegas, Anna Marcé‐Grau, Laura Martí‐Sánchez et al. · Parkinsonism & Related Disorders · 2020 · 18 citations

Medicine, Neurology, Neuroscience +14

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