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Clinical Biochemistry
|
November 22, 2007
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
Paola Concolino, Salvatore Corsello, Cinzia Carrozza, et al.
Practical Laboratory Medicine
|
May 31, 2024
The Italian external quality assessment program for Cystic Fibrosis sweat chloride test: CFTR modulators and the impact of a new sweat test report form
Natalia Cirilli, Giovanna Floridia, Annalisa Amato, et al.
Molecular Diagnosis & Therapy
|
June 17, 2017
Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome
Paola Concolino, Roberta Rizza, Karl Hackmann, et al.
JCO Precision Oncology
|
August 3, 2023
D898_E901 <i>RET</i> Deletion Is Oncogenic, Responds to Selpercatinib, and Treatment Resistance Can Arise Via RET-Independent Mechanisms
Tommaso Porcelli, Marialuisa Moccia, Maria Angela De Stefano, et al.
Annali Dell'Istituto Superiore Di Sanita
|
April 4, 2020
Identification of two novel LDLR variants by Next Generation Sequencing
Simona Moffa, Giorgia Mazzuccato, Maria De Bonis, et al.
Cytokine
|
August 5, 2006
Inverse correlation between serum free IGF-I and IGFBP-3 levels and blood pressure in patients affected with type 1 diabetes
Ettore Capoluongo, Dario Pitocco, Paola Lulli, et al.
Drug Testing and Analysis
|
July 22, 2017
Effect of alcohol dehydrogenase-1B and -7 polymorphisms on blood ethanol and acetaldehyde concentrations in healthy subjects with a history of moderate alcohol consumption
Roberta Pastorino, Luigi Iuliano, Alessia Vecchioni, et al.
Experimental and Molecular Pathology
|
March 31, 2019
High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting
Maria De Bonis, Elisa De Paolis, Giovanni Luca Scaglione, et al.
Human Genome Variation
|
June 15, 2018
High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report
Alessandra Costella, Rossella De Leo, Donatella Guarino, et al.
Clinical Chemistry and Laboratory Medicine
|
July 8, 2008
A novel MEN1 frameshift germline mutation in two Italian monozygotic twins
Paola Concolino, Aurora Rossodivita, Cinzia Carrozza, et al.
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Search research articles
Search
Showing results (121-130 of 192) with videos related to
Sort By:
Page
of 20
Clinical Biochemistry
|
November 22, 2007
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
Paola Concolino, Salvatore Corsello, Cinzia Carrozza, et al.
Practical Laboratory Medicine
|
May 31, 2024
The Italian external quality assessment program for Cystic Fibrosis sweat chloride test: CFTR modulators and the impact of a new sweat test report form
Natalia Cirilli, Giovanna Floridia, Annalisa Amato, et al.
Molecular Diagnosis & Therapy
|
June 17, 2017
Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome
Paola Concolino, Roberta Rizza, Karl Hackmann, et al.
JCO Precision Oncology
|
August 3, 2023
D898_E901 <i>RET</i> Deletion Is Oncogenic, Responds to Selpercatinib, and Treatment Resistance Can Arise Via RET-Independent Mechanisms
Tommaso Porcelli, Marialuisa Moccia, Maria Angela De Stefano, et al.
Annali Dell'Istituto Superiore Di Sanita
|
April 4, 2020
Identification of two novel LDLR variants by Next Generation Sequencing
Simona Moffa, Giorgia Mazzuccato, Maria De Bonis, et al.
Cytokine
|
August 5, 2006
Inverse correlation between serum free IGF-I and IGFBP-3 levels and blood pressure in patients affected with type 1 diabetes
Ettore Capoluongo, Dario Pitocco, Paola Lulli, et al.
Drug Testing and Analysis
|
July 22, 2017
Effect of alcohol dehydrogenase-1B and -7 polymorphisms on blood ethanol and acetaldehyde concentrations in healthy subjects with a history of moderate alcohol consumption
Roberta Pastorino, Luigi Iuliano, Alessia Vecchioni, et al.
Experimental and Molecular Pathology
|
March 31, 2019
High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting
Maria De Bonis, Elisa De Paolis, Giovanni Luca Scaglione, et al.
Human Genome Variation
|
June 15, 2018
High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report
Alessandra Costella, Rossella De Leo, Donatella Guarino, et al.
Clinical Chemistry and Laboratory Medicine
|
July 8, 2008
A novel MEN1 frameshift germline mutation in two Italian monozygotic twins
Paola Concolino, Aurora Rossodivita, Cinzia Carrozza, et al.
Page
of 20