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BMC Medical Genetics
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July 25, 2014
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2
Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, et al.
Molecular Cancer
|
December 17, 2015
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders
Alberto L'Abbate, Doron Tolomeo, Francesca De Astis, et al.
Scientific Reports
|
August 12, 2016
Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia
Orazio Palmieri, Tommaso Mazza, Antonio Merla, et al.
Journal of Electrocardiology
|
February 5, 2019
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete
Stefano Castellana, Sandra Mastroianno, Pietro Palumbo, et al.
Molecular Genetics and Metabolism
|
July 14, 2012
CASR gene activating mutations in two families with autosomal dominant hypocalcemia
Vito Guarnieri, Angela Valentina D'Elia, Filomena Baorda, et al.
Diabetes
|
October 11, 2017
Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes
Serena Pezzilli, Ornella Ludovico, Tommaso Biagini, et al.
Scientific Reports
|
July 7, 2018
DNA methylation landscape of the genes regulating D-serine and D-aspartate metabolism in post-mortem brain from controls and subjects with schizophrenia
Simona Keller, Daniela Punzo, Mariella Cuomo, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2010
Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies
Massimo Carella, Filippo Spreafico, Orazio Palumbo, et al.
Clinical and Experimental Medicine
|
March 17, 2019
1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia
Giulia Daniele, Alberto L'Abbate, Antonella Turchiano, et al.
Clinical Epigenetics
|
October 30, 2019
Selective demethylation of two CpG sites causes postnatal activation of the Dao gene and consequent removal of D-serine within the mouse cerebellum
Mariella Cuomo, Simona Keller, Daniela Punzo, et al.
Page
of 21
Search research articles
Search
Showing results (131-140 of 207) with videos related to
Sort By:
Page
of 21
BMC Medical Genetics
|
July 25, 2014
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2
Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, et al.
Molecular Cancer
|
December 17, 2015
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders
Alberto L'Abbate, Doron Tolomeo, Francesca De Astis, et al.
Scientific Reports
|
August 12, 2016
Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia
Orazio Palmieri, Tommaso Mazza, Antonio Merla, et al.
Journal of Electrocardiology
|
February 5, 2019
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete
Stefano Castellana, Sandra Mastroianno, Pietro Palumbo, et al.
Molecular Genetics and Metabolism
|
July 14, 2012
CASR gene activating mutations in two families with autosomal dominant hypocalcemia
Vito Guarnieri, Angela Valentina D'Elia, Filomena Baorda, et al.
Diabetes
|
October 11, 2017
Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes
Serena Pezzilli, Ornella Ludovico, Tommaso Biagini, et al.
Scientific Reports
|
July 7, 2018
DNA methylation landscape of the genes regulating D-serine and D-aspartate metabolism in post-mortem brain from controls and subjects with schizophrenia
Simona Keller, Daniela Punzo, Mariella Cuomo, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2010
Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies
Massimo Carella, Filippo Spreafico, Orazio Palumbo, et al.
Clinical and Experimental Medicine
|
March 17, 2019
1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia
Giulia Daniele, Alberto L'Abbate, Antonella Turchiano, et al.
Clinical Epigenetics
|
October 30, 2019
Selective demethylation of two CpG sites causes postnatal activation of the Dao gene and consequent removal of D-serine within the mouse cerebellum
Mariella Cuomo, Simona Keller, Daniela Punzo, et al.
Page
of 21