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Journal of Medical Genetics|November 6, 2009
Phenotypic spectrum of MFN2 mutations in the Spanish populationC Casasnovas, I Banchs, J Cassereau, et al.American Journal of Human Genetics|June 13, 1998
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 geneE Ars, H Kruyer, A Gaona, et al.AIDS (London, England)|November 1, 1992
Methods for detecting early signs of AIDS dementia complex in asymptomatic HIV-1-infected subjectsM A Rosci, F Pigorini, A Bernabei, et al.Nuklearmedizin. Nuclear Medicine|February 1, 1991
Cerebral blood flow in AIDS-related neurotoxoplasmosis: a preliminary 99mTc-HMPAO SPECT studyF Pigorini, C L Maini, F M Pau, et al.Journal of Medical Genetics|March 21, 1998
Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) methodM A Pujana, V Volpini, M Gratacós, et al.Medicina Clinica|September 21, 1996
[The molecular pathology of RET protooncogene in families with multiple endocrine neoplasia type 2A]J Biarnés, M Miranda, J Corral, et al.Human Mutation|May 2, 2000
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) geneN López-Bigas, R Rabionet, E Martínez, et al.Human Genetics|August 24, 1999
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study GroupM A Pujana, J Corral, M Gratacòs, et al.Human Genetics|January 24, 1998
Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) geneS Puig, A Ruiz, T Castel, et al.Human Genetics|January 7, 1998
Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patientsM A Pujana, M Gratacós, J Corral, et al.Pageof 6