Paola Grammatico

Increased Sensitivity to Peroxidative Agents as a Possible Pathogenic Factor of Melanocyte Damage in Vitiligo

Vittoria Maresca, Maria Roccella, F. Roccella et al. · Journal of Investigative Dermatology · 1997 · 293 citations · Full text

Life Sciences, Toxicology, Redox Biochemistry +11

Syndromic true hermaphroditism due to an R-spondin1 ( <i>RSPO1</i> ) homozygous mutation

Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo et al. · Human Mutation · 2007 · 278 citations

Life Sciences, Genetics, Molecular Genetics +17

Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso et al. · The American Journal of Human Genetics · 2006 · 225 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients

Marco Castori, Filippo Camerota, Claudia Celletti et al. · American Journal of Medical Genetics Part A · 2010 · 225 citations

Life Sciences, Genetics, Otolaryngology +10

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10