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1 . Academic Journal
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants
저자
by
Paola Concolino
;
Gianfranco Gelli
;
Roberta Rizza
;
Alessandra Costella
;
Giovanni Scambia
, et al.
소스
International Journal of Molecular Sciences, Vol 20, Iss 14, p 3442 (2019)
Open Access (DOAJ)
Web of Science
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7 .
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance
저자
by
Alessandra Costella
;
Andrea Corsello
;
Rosa Maria Paragliola
;
Andrea Urbani
;
Paola Concolino
.
소스
Molecular Diagnosis & Therapy
. 24:473-485
Web of Science
Scopus
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7 .
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
저자
by
Paola Concolino
;
Alessandra Costella
.
소스
Molecular Diagnosis & Therapy
. 22:261-280
Web of Science
Scopus
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4 .
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)
저자
by
Paola Concolino
;
Alessandra Costella
;
Rosa Maria Paragliola
.
소스
Molecular diagnosistherapy
. 23(3)
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5 .
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
저자
by
Giovanni Scambia
;
Ettore Capoluongo
;
Rossella De Leo
;
Alessandra Costella
;
Andrea Urbani
, et al.
소스
Human Genome Variation
Human Genome Variation, Vol 5, Iss 1, Pp 1-4 (2018)
Open Access (OpenAIRE)
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7 .
Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype
저자
by
Giovanni Scambia
;
Giuseppa Scandurra
;
Ettore Capoluongo
;
Maria De Bonis
;
Alessandra Costella
, et al.
소스
Expert Review of Molecular Diagnostics
. 16:715-717
Web of Science
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7 .
Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome
저자
by
Evelin Schröck
;
Roberta Rizza
;
Ettore Capoluongo
;
Paola Concolino
;
Cecilia Zuppi
, et al.
소스
Molecular diagnosistherapy
. 21(5)
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7 .
CYP21A2 intronic variants causing 21-hydroxylase deficiency
저자
by
Cecilia Zuppi
;
Ettore Capoluongo
;
Roberta Rizza
;
Alessandra Costella
;
Paola Concolino
, et al.
소스
요약보기
Export
E-Mail
EndNote
RefWorks
7 .
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants
저자
by
Giovanni Scambia
;
Paola Concolino
;
Gianfranco Gelli
;
Ettore Capoluongo
;
Alessandra Costella
, et al.
소스
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 20, Iss 14, p 3442 (2019)
Volume 20
Issue 14
Open Access (OpenAIRE)
Web of Science
Scopus
JCR 저널정보
요약보기
Export
E-Mail
EndNote
RefWorks
7 .
CYP21A2 genetics: When genotype does not fit phenotype
저자
by
Paola Concolino
;
Ilaria Sani
;
Ettore Capoluongo
;
A. Rossodivita
;
Alessandra Costella
, et al.
소스
요약보기
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