Get started
Author

G.M.S. Mancini

Observed names: G. Mancini, G.M. Mancini, Gracia M.S. Mancini
Institution: Erasmus MC
Observed institution: Erasmus MC
OpenAlex ID: A5111457461
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
2010 · W. G. Leen, J. Klepper, et al. · Brain · 427
PDF
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
2010 · Ravinesh A. Kumar, Daniela T. Pilz, et al. · Human Molecular Genetics · 215
PDF
Genotype–phenotype correlation of contiguous gene deletions of SLC6A8 , BCAP31 and ABCD1
2014 · J.M. van de Kamp, A. Errami, et al. · Clinical Genetics · 34
Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten
2010 · G.J.G. Ruijter, O.P. Diggelen, et al. · Tijdschrift voor kindergeneeskunde · 1
[P2.75]: Malformations of cortical development: Genomic analysis by high density microarrays in a large patient cohort
2010 · G.M. Mancini, R. Schot, et al. · International Journal of Developmental Neuroscience
Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13
2009 · Cheryl Shoubridge, May H. Tan, et al. · Adelaide Research & Scholarship (AR&S) (University of Adelaide)
Works count: 6
Citation count: 677
H-index: 3
I10-index: 3
Year
Topic
Type