Dafne D. G. Horovitz

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Publications

Citations

162

H-Index

Active since

2015

Affiliations

National Institute on Population Medical Genetics(Current)

Dafne D. G. Horovitz is an author at National Institute on Population Medical Genetics specializing in molecular pathology, genetic disorders, and human genetics.

Publications per year

2015–2018

Publications

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Vincenzo A. Gennarino, Callison E Alcott, Chun‐An Chen et al. · eLife · 2015 · 82 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Éva Morava, Vera Tiemes, Christian Thiel et al. · Journal of Inherited Metabolic Disease · 2016 · 47 citations · Full text

Medicine, Neurology, Neuroscience +12

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

Anneliese Lopes Barth, Dafne D. G. Horovitz · Journal of Inborn Errors of Metabolism and Screening · 2018 · 17 citations · Full text

Medicine, Neurology, Pathology +9

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Maria Eduarda Gomes, Thatiane Yoshie Kanazawa, Fernanda R. Riba et al. · Molecular Syndromology · 2018 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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