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Pediatric Blood & Cancer
|
May 8, 2009
A prolonged neonatal jaundice associated with a rare G6PD mutation
Angelo Minucci, Paola Concolino, Daniele De Luca, et al.
Blood Cells, Molecules & Diseases
|
February 2, 2012
Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations
Angelo Minucci, Kamran Moradkhani, Ming Jing Hwang, et al.
Metabolism: Clinical and Experimental
|
October 22, 2011
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients
Paola Concolino, Enrica Mello, Maria Cristina Patrosso, et al.
BMC Medical Genetics
|
July 24, 2009
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
Paola Concolino, Enrica Mello, Angelo Minucci, et al.
Clinical Biochemistry
|
October 27, 2012
Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia
Angelo Minucci, Giulia Canu, Leonarda Gentile, et al.
Rare Tumors
|
February 14, 2017
Oncocytic Variant of Medullary Thyroid Carcinoma: A Rare Case of Sporadic Multifocal and Bilateral <i>RET</i> Wild-Type Neoplasm with Revision of the Literature
Gian Luca Rampioni Vinciguerra, Niccolò Noccioli, Claudia Cippitelli, et al.
Clinical Chemistry and Laboratory Medicine
|
March 28, 2014
Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection
Paola Concolino, Enrica Mello, Angelo Minucci, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 15, 2022
The performance of multi-gene panels for breast/ovarian cancer predisposition
Marcella Nunziato, Giovanni Luca Scaglione, Federica Di Maggio, et al.
Clinical Chemistry and Laboratory Medicine
|
December 6, 2008
Reliability and correlation study of a new homocysteine assay
Silvia Persichilli, Jacopo Gervasoni, Daniel De Martino, et al.
Clinical Chemistry and Laboratory Medicine
|
February 26, 2022
The value proposition of integrative diagnostics for (early) detection of cancer. On behalf of the EFLM interdisciplinary Task and Finish Group "CNAPS/CTC for early detection of cancer"
Matthias F Froelich, Ettore Capoluongo, Zsolt Kovacs, et al.
Page
of 20
Search research articles
Search
Showing results (31-40 of 192) with videos related to
Sort By:
Page
of 20
Pediatric Blood & Cancer
|
May 8, 2009
A prolonged neonatal jaundice associated with a rare G6PD mutation
Angelo Minucci, Paola Concolino, Daniele De Luca, et al.
Blood Cells, Molecules & Diseases
|
February 2, 2012
Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations
Angelo Minucci, Kamran Moradkhani, Ming Jing Hwang, et al.
Metabolism: Clinical and Experimental
|
October 22, 2011
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients
Paola Concolino, Enrica Mello, Maria Cristina Patrosso, et al.
BMC Medical Genetics
|
July 24, 2009
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
Paola Concolino, Enrica Mello, Angelo Minucci, et al.
Clinical Biochemistry
|
October 27, 2012
Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia
Angelo Minucci, Giulia Canu, Leonarda Gentile, et al.
Rare Tumors
|
February 14, 2017
Oncocytic Variant of Medullary Thyroid Carcinoma: A Rare Case of Sporadic Multifocal and Bilateral <i>RET</i> Wild-Type Neoplasm with Revision of the Literature
Gian Luca Rampioni Vinciguerra, Niccolò Noccioli, Claudia Cippitelli, et al.
Clinical Chemistry and Laboratory Medicine
|
March 28, 2014
Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection
Paola Concolino, Enrica Mello, Angelo Minucci, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 15, 2022
The performance of multi-gene panels for breast/ovarian cancer predisposition
Marcella Nunziato, Giovanni Luca Scaglione, Federica Di Maggio, et al.
Clinical Chemistry and Laboratory Medicine
|
December 6, 2008
Reliability and correlation study of a new homocysteine assay
Silvia Persichilli, Jacopo Gervasoni, Daniel De Martino, et al.
Clinical Chemistry and Laboratory Medicine
|
February 26, 2022
The value proposition of integrative diagnostics for (early) detection of cancer. On behalf of the EFLM interdisciplinary Task and Finish Group "CNAPS/CTC for early detection of cancer"
Matthias F Froelich, Ettore Capoluongo, Zsolt Kovacs, et al.
Page
of 20