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European Journal of Medical Genetics
|
December 29, 2012
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis
M Cristina Digilio, Laura Bernardini, Federica Consoli, et al.
Dermatology (Basel, Switzerland)
|
April 8, 2024
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients
Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, et al.
BMC Medical Genetics
|
January 24, 2014
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, et al.
Cancer Research
|
April 15, 2010
Oncogenic role of miR-483-3p at the IGF2/483 locus
Angelo Veronese, Laura Lupini, Jessica Consiglio, et al.
Molecular Medicine (Cambridge, Mass.)
|
June 7, 2016
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis
Valentina Maria Sofia, Letizia Da Sacco, Cecilia Surace, et al.
Archives of Disease in Childhood
|
October 5, 2014
Kabuki syndrome: clinical and molecular diagnosis in the first year of life
Maria Lisa Dentici, Alessandra Di Pede, Francesca Romana Lepri, et al.
BMC Cancer
|
November 5, 2015
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma
Simona Grotta, Gemma D'Elia, Rossana Scavelli, et al.
Plos One
|
November 19, 2013
Biological, functional and genetic characterization of bone marrow-derived mesenchymal stromal cells from pediatric patients affected by acute lymphoblastic leukemia
Antonella Conforti, Simone Biagini, Francesca Del Bufalo, et al.
Epigenetics & Chromatin
|
January 8, 2014
Telomere shortening and telomere position effect in mild ring 17 syndrome
Cecilia Surace, Francesco Berardinelli, Andrea Masotti, et al.
Molecular Medicine (Cambridge, Mass.)
|
August 24, 2018
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis
Valentina Maria Sofia, Cecilia Surace, Vito Terlizzi, et al.
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of 5
Search research articles
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Showing results (31-40 of 42) with videos related to
Sort By:
Page
of 5
European Journal of Medical Genetics
|
December 29, 2012
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis
M Cristina Digilio, Laura Bernardini, Federica Consoli, et al.
Dermatology (Basel, Switzerland)
|
April 8, 2024
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients
Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, et al.
BMC Medical Genetics
|
January 24, 2014
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, et al.
Cancer Research
|
April 15, 2010
Oncogenic role of miR-483-3p at the IGF2/483 locus
Angelo Veronese, Laura Lupini, Jessica Consiglio, et al.
Molecular Medicine (Cambridge, Mass.)
|
June 7, 2016
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis
Valentina Maria Sofia, Letizia Da Sacco, Cecilia Surace, et al.
Archives of Disease in Childhood
|
October 5, 2014
Kabuki syndrome: clinical and molecular diagnosis in the first year of life
Maria Lisa Dentici, Alessandra Di Pede, Francesca Romana Lepri, et al.
BMC Cancer
|
November 5, 2015
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma
Simona Grotta, Gemma D'Elia, Rossana Scavelli, et al.
Plos One
|
November 19, 2013
Biological, functional and genetic characterization of bone marrow-derived mesenchymal stromal cells from pediatric patients affected by acute lymphoblastic leukemia
Antonella Conforti, Simone Biagini, Francesca Del Bufalo, et al.
Epigenetics & Chromatin
|
January 8, 2014
Telomere shortening and telomere position effect in mild ring 17 syndrome
Cecilia Surace, Francesco Berardinelli, Andrea Masotti, et al.
Molecular Medicine (Cambridge, Mass.)
|
August 24, 2018
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis
Valentina Maria Sofia, Cecilia Surace, Vito Terlizzi, et al.
Page
of 5