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(1 - 4 of 4)
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
Breckpot, J.; Vercruyssen, M.; Weyts, E.; Vandevoort, S.; D'Haenens, G.; Buggenhout, G. van; ... ; Vogels, A. 2016
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
Article / Letter to editor
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FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
Peterlongo, P.; Catucci, I.; Colombo, M.; Caleca, L.; Mucaki, E.; Bogliolo, M.; ... ; SWE-BRCA 2015
FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
Article / Letter to editor
metadata only
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
Yamamoto, T.; Mencarelli, M.A.; Marco, C. di; Mucciolo, M.; Vascotto, M.; Balestri, P.; ... ; Mari, F. 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
Article / Letter to editor
metadata only
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
Bijlsma, E.K.; Collins, A.; Papa, F.T.; Tejada, M.I.; Wheeler, P.; Peeters, E.A.J.; ... ; Ruivenkamp, C.A.L. 2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
Article / Letter to editor
metadata only