Grazia Mancini

Grazia Mancini

Erasmus University - Rotterdam / Netherlands
Medical and Health Sciences / Neurology
AD Scientific Index ID: 4702007
Erasmus Universiteit
person_outline Grazia Mancini's MOST POPULAR ARTICLES
1-) New loci associated with kidney function and chronic kidney diseaseA Köttgen, C Pattaro, CA Böger, C Fuchsberger, M Olden, NL Glazer, ...Nature genetics 42 (5), 376-384, 20108522010
2-) De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJB Rivière, GM Mirzaa, BJ O\\\'Roak, M Beddaoui, D Alcantara, RL Conway, ...Nature genetics 44 (8), 934-940, 20126722012
3-) Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disordersM Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...Brain 140 (5), 1316-1336, 20174352017
4-) Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKLC Sobacchi, A Frattini, MM Guerrini, M Abinun, A Pangrazio, L Susani, ...Nature genetics 39 (8), 960-962, 20074622007
5-) Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderWG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ...Brain 133 (3), 655-670, 20104462010