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Molecular Diagnosis & Therapy
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February 7, 2024
Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis
Paola Concolino
Molecular Diagnosis & Therapy
|
July 19, 2019
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency
Paola Concolino
Current Issues in Molecular Biology
|
May 24, 2024
Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of <i>CYP21A2</i> Gene
Paola Concolino
Molecular Biology Reports
|
March 19, 2020
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH)
Paola Concolino
Expert Review of Molecular Diagnostics
|
August 21, 2019
Detection of <i>BRCA1/2</i> large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods
Paola Concolino, Ettore Capoluongo
Molecular Diagnosis & Therapy
|
April 27, 2022
CAH-X Syndrome: Genetic and Clinical Profile
Paola Concolino, Henrik Falhammar
Molecular Diagnosis & Therapy
|
February 17, 2018
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
Paola Concolino, Alessandra Costella
Journal of the Endocrine Society
|
February 6, 2025
Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications
Paola Concolino, Henrik Falhammar
Molecular Diagnosis & Therapy
|
March 12, 2021
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns
Paola Concolino, Rosa Maria Paragliola
Frontiers in Endocrinology
|
February 10, 2022
Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Mirjana Kocova, Paola Concolino, Henrik Falhammar
Page
of 11
Search research articles
Search
Showing results (1-10 of 102) with videos related to
Sort By:
Page
of 11
Molecular Diagnosis & Therapy
|
February 7, 2024
Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis
Paola Concolino
Molecular Diagnosis & Therapy
|
July 19, 2019
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency
Paola Concolino
Current Issues in Molecular Biology
|
May 24, 2024
Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of <i>CYP21A2</i> Gene
Paola Concolino
Molecular Biology Reports
|
March 19, 2020
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH)
Paola Concolino
Expert Review of Molecular Diagnostics
|
August 21, 2019
Detection of <i>BRCA1/2</i> large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods
Paola Concolino, Ettore Capoluongo
Molecular Diagnosis & Therapy
|
April 27, 2022
CAH-X Syndrome: Genetic and Clinical Profile
Paola Concolino, Henrik Falhammar
Molecular Diagnosis & Therapy
|
February 17, 2018
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
Paola Concolino, Alessandra Costella
Journal of the Endocrine Society
|
February 6, 2025
Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications
Paola Concolino, Henrik Falhammar
Molecular Diagnosis & Therapy
|
March 12, 2021
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns
Paola Concolino, Rosa Maria Paragliola
Frontiers in Endocrinology
|
February 10, 2022
Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Mirjana Kocova, Paola Concolino, Henrik Falhammar
Page
of 11