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American Journal of Medical Genetics. Part A|June 18, 2009
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothersL Giordano, A Vignoli, L Pinelli, et al.
Biochimica Et Biophysica Acta|April 16, 1998
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L)G Novelli, A Mari, F Amati, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)S Schuffenhauer, P Lichtner, P Peykar-Derakhshandeh, et al.
Neurology|February 25, 2005
The epsilon-sarcoglycan gene in myoclonic syndromesE M Valente, M J Edwards, P Mir, et al.
International Journal of Cancer|October 23, 2001
Ext-mutation analysis in Italian sporadic and hereditary osteochondromasM Gigante, M G Matera, D Seripa, et al.
Diabetologia|June 27, 2009
IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascertainment of the contribution to disease susceptibility of 'low-frequency-low-risk' variantsE Morini, S Prudente, E Succurro, et al.
Clinical Genetics|June 21, 2008
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati, L Travaglini, D Zablocka, et al.
Neurology|May 25, 2005
The diverse phenotype and genotype of pantothenate kinase-associated neurodegenerationM T Pellecchia, E M Valente, L Cif, et al.
American Journal of Human Genetics|April 1, 1996
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndromeA Pizzuti, G Novelli, A Mari, et al.
Annals of Human Genetics|January 25, 2007
The missing ApoE alleleD Seripa, M G Matera, A Daniele, et al.
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