Showing results (91-100 of 108) with videos related to

Sort By:
Pageof 11
Neurogenetics|February 26, 2009
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypesS Russo, M Marchi, F Cogliati, et al.
American Journal of Human Genetics|January 13, 2000
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probesP Riva, L Corrado, F Natacci, et al.
Oncogene|October 26, 2005
Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell linesG Roversi, R Pfundt, R F Moroni, et al.
Molecular and Cellular Probes|February 5, 2000
Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian populationF Natacci, P Colapietro, P Riva, et al.
Clinical Genetics|September 19, 2008
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genesC Gervasini, R Pfundt, P Castronovo, et al.
International Journal of Cancer|June 22, 2000
A tumor suppressor locus in familial and sporadic chordoma maps to 1p36M Miozzo, L Dalprà, P Riva, et al.
International Journal of Cancer|July 29, 1998
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndromeM Miozzo, P Castorina, P Riva, et al.
Journal of Endocrinological Investigation|January 6, 2018
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short statureM Crippa, S Giangiobbe, R Villa, et al.
Journal of Medical Genetics|August 3, 2006
Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann regionS Russo, P Finelli, M P Recalcati, et al.
Journal of Medical Genetics|January 30, 2007
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndromeF R Grati, L Turolla, P D'Ajello, et al.
Pageof 11