Concepedia
Statistics
Publications
4
Citations
469
H-Index
Active since
2007
Affiliations
Hospital de Santo António(Current)
Hospital Maria Pia
Hospital de Egas Moniz
Universidade do Porto
Hospital Garcia de Orta
Alexandra Cabral is an author at Hospital de Santo António specializing in neurogenetics, genetic disorders, and human genetics.
Publications per year
2007–2010
Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)
Christiane Zweier, Maarit Peippo, Juliane Hoyer et al. · The American Journal of Human Genetics · 2007 · 323 citations · Full text
Medicine, Molecular Genetics, Psychiatry +5
Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Teresa Temudo, Elisabete Ramos, Karin Ziliotto Dias et al. · Movement Disorders · 2008 · 93 citations
Life Sciences, Genetics, Neurology +12
Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes
Teresa Temudo, Mònica Santos, Elisabete Ramos et al. · Brain and Development · 2010 · 34 citations · Full text
Life Sciences, Genetics, Molecular Genetics +9
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy
Jorge Oliveira, Isabel Soares‐Silva, Ivo F.A.C. Fokkema et al. · Journal of Human Genetics · 2008 · 19 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
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