Grazia Mancini
Grazia Mancini
ErasmusMC Rotterdam, Clinical Genetics
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Cytowane przez
New loci associated with kidney function and chronic kidney disease
A Köttgen, C Pattaro, CA Böger, C Fuchsberger, M Olden, NL Glazer, ...
Nature genetics 42 (5), 376-384, 2010
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ...
Nature genetics 44 (8), 934-940, 2012
Teaching complex rather than simple tasks: Balancing intrinsic and germane load to enhance transfer of learning
JJG Van Merriënboer, L Kester, F Paas
Applied Cognitive Psychology: The Official Journal of the Society for …, 2006
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
C Sobacchi, A Frattini, MM Guerrini, M Abinun, A Pangrazio, L Susani, ...
Nature genetics 39 (8), 960-962, 2007
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
PJ Coucke, A Willaert, MW Wessels, B Callewaert, N Zoppi, J De Backer, ...
Nature genetics 38 (4), 452-457, 2006
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ...
Brain 133 (3), 655-670, 2010
Variation of human milk oligosaccharides in relation to milk groups and lactational periods
S Thurl, M Munzert, J Henker, G Boehm, B Müller-Werner, J Jelinek, ...
British Journal of Nutrition 104 (9), 1261-1271, 2010
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, U Hedrich, S Masnada, G Rubboli, E Gardella, ...
Brain 140 (5), 1316-1336, 2017
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ...
Human mutation 30 (4), 695-702, 2009
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
FW Verheijen, E Verbeek, N Aula, CEMT Beerens, AC Havelaar, ...
Nature genetics 23 (4), 462-465, 1999
Hypoxia-inducible factor induces local thyroid hormone inactivation during hypoxic-ischemic disease in rats
WS Simonides, MA Mulcahey, EM Redout, A Muller, MJ Zuidwijk, ...
The Journal of clinical investigation 118 (3), 975-983, 2008
Magnetic resonance imaging pattern recognition in hypomyelinating disorders
ME Steenweg, A Vanderver, S Blaser, A Bizzi, TJ De Koning, ...
Brain 133 (10), 2971-2982, 2010
The metabolic syndrome, cardiopulmonary fitness, and subcutaneous trunk fat as independent determinants of arterial stiffness: the Amsterdam Growth and Health Longitudinal Study
I Ferreira, RMA Henry, JWR Twisk, W van Mechelen, HCG Kemper, ...
Archives of internal medicine 165 (8), 875-882, 2005
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440-444, 2012
Large Meta-Analysis Establishes the ACE Insertion-Deletion Polymorphism as a Marker of Alzheimer's Disease
DJ Lehmann, M Cortina-Borja, DR Warden, AD Smith, K Sleegers, ...
American journal of epidemiology 162 (4), 305-317, 2005
Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome
DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ...
Journal of medical genetics 45 (11), 710-720, 2008
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
S Hanks, S Adams, J Douglas, L Arbour, DJ Atherton, S Balci, H Bode, ...
The American Journal of Human Genetics 73 (4), 791-800, 2003
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ...
Nature genetics 44 (5), 581-585, 2012
The effect of perindopril on cardiovascular morbidity and mortality in patients with diabetes in the EUROPA study: results from the PERSUADE substudy
CA Daly, KM Fox, WJ Remme, ME Bertrand, R Ferrari, ML Simoons
European heart journal 26 (14), 1369-1378, 2005
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
RA Kumar, DT Pilz, TD Babatz, TD Cushion, K Harvey, M Topf, L Yates, ...
Human molecular genetics 19 (14), 2817-2827, 2010
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