Ana Medeira

Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks et al. · American Journal of Medical Genetics Part A · 2013 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

<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

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro et al. · BMC Medical Genetics · 2011 · 91 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere et al. · European Journal of Human Genetics · 2003 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Ophthalmological Aspects of Pierson Syndrome

Cecilie Bredrup, Verena Matejas, Margaret Barrow et al. · American Journal of Ophthalmology · 2008 · 80 citations · Full text

Medicine, Neurology, Ophthalmology +9