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Human Genetics
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September 19, 2003
NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient
Patrizia Colapietro, Cristina Gervasini, Federica Natacci, et al.
BMC Health Services Research
|
March 19, 2016
Survey of medical genetic services in Italy: year 2011
Daniela Giardino, Rita Mingarelli, Tiziana Lauretti, et al.
Scientific Reports
|
November 3, 2015
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor
Elisa A Colombo, Silvia Carra, Laura Fontana, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2005
Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations
Maria Teresa Bonati, Palma Finelli, Daniela Giardino, et al.
Leukemia Research
|
February 24, 2005
Imatinib mesylate in the treatment of Core Binding Factor leukemias with KIT mutations. A report of three cases
Roberto Cairoli, Alessandro Beghini, Enrico Morello, et al.
Experimental Hematology
|
May 25, 2005
STI 571 inhibition effect on KITAsn822Lys-mediated signal transduction cascade
Alessandro Beghini, Melissa Bellini, Ivana Magnani, et al.
Cancer Genetics and Cytogenetics
|
December 9, 2008
Fluorescence in situ hybridization dissection of a chronic myeloid leukemia case bearing the apparently balanced translocations (9;22)(q34;q11.2) and (11;11)(p15;q13)
Francesca Malvestiti, Daniela Colombo, Daniele Perego, et al.
Neurogenetics
|
January 21, 2006
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
Marco Venturin, Silvia Moncini, Valentina Villa, et al.
Genetics and Molecular Biology
|
August 6, 2021
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition
Gaia Roversi, Elisa Adele Colombo, Ivana Magnani, et al.
Genes
|
September 28, 2024
A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review
Maria Teresa Bonati, Cristina Baldoli, Jacopo Taurino, et al.
Page
of 15
Search research articles
Search
Showing results (21-30 of 150) with videos related to
Sort By:
Page
of 15
Human Genetics
|
September 19, 2003
NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient
Patrizia Colapietro, Cristina Gervasini, Federica Natacci, et al.
BMC Health Services Research
|
March 19, 2016
Survey of medical genetic services in Italy: year 2011
Daniela Giardino, Rita Mingarelli, Tiziana Lauretti, et al.
Scientific Reports
|
November 3, 2015
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor
Elisa A Colombo, Silvia Carra, Laura Fontana, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2005
Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations
Maria Teresa Bonati, Palma Finelli, Daniela Giardino, et al.
Leukemia Research
|
February 24, 2005
Imatinib mesylate in the treatment of Core Binding Factor leukemias with KIT mutations. A report of three cases
Roberto Cairoli, Alessandro Beghini, Enrico Morello, et al.
Experimental Hematology
|
May 25, 2005
STI 571 inhibition effect on KITAsn822Lys-mediated signal transduction cascade
Alessandro Beghini, Melissa Bellini, Ivana Magnani, et al.
Cancer Genetics and Cytogenetics
|
December 9, 2008
Fluorescence in situ hybridization dissection of a chronic myeloid leukemia case bearing the apparently balanced translocations (9;22)(q34;q11.2) and (11;11)(p15;q13)
Francesca Malvestiti, Daniela Colombo, Daniele Perego, et al.
Neurogenetics
|
January 21, 2006
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
Marco Venturin, Silvia Moncini, Valentina Villa, et al.
Genetics and Molecular Biology
|
August 6, 2021
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition
Gaia Roversi, Elisa Adele Colombo, Ivana Magnani, et al.
Genes
|
September 28, 2024
A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review
Maria Teresa Bonati, Cristina Baldoli, Jacopo Taurino, et al.
Page
of 15