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Search Results - Striglioni, Niccolò
Search Results - Striglioni, Niccolò
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Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD
by
Buonocore, Federica
,
Clifford-Mobley, Oliver
,
King, Tom F J
,
Striglioni, Niccolò
,
Man, Elim
,
Suntharalingham, Jenifer P
,
Del Valle, Ignacio
,
Lin, Lin
,
Lagos, Carlos F
,
Rumsby, Gill
,
Conway, Gerard S
,
Achermann, John C
Published in
Journal of the Endocrine Society
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Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
by
Maharaj, Avinaash
,
Buonocore, Federica
,
Meimaridou, Eirini
,
Ruiz-Babot, Gerard
,
Guasti, Leonardo
,
Peng, Hwei-Ming
,
Capper, Cameron P
,
Burgos-Tirado, Neikelyn
,
Prasad, Rathi
,
Hughes, Claire R
,
Maudhoo, Ashwini
,
Crowne, Elizabeth
,
Cheetham, Timothy D
,
Brain, Caroline E
,
Suntharalingham, Jenifer P
,
Striglioni, Niccolò
,
Yuksel, Bilgin
,
Gurbuz, Fatih
,
Gupta, Sangay
,
Lindsay, Robert
,
Couch, Robert
,
Spoudeas, Helen A
,
Guran, Tulay
,
Johnson, Stephanie
,
Fowler, Dallas J
,
Conwell, Louise S
,
McInerney-Leo, Aideen M
,
Drui, Delphine
,
Cariou, Bertrand
,
Lopez-Siguero, Juan P
,
Harris, Mark
,
Duncan, Emma L
,
Hindmarsh, Peter C
,
Auchus, Richard J
,
Donaldson, Malcolm D
,
Achermann, John C
,
Metherell, Louise A
Published in
Journal of the Endocrine Society
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Journal Of The Endocrine Society
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Subjects
Endocrinology & Metabolism
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Life Sciences & Biomedicine
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Science & Technology
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Addison Disease
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Adults
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Clinical S
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Cyp11A1
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Cytochrome P450Scc
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Desert Hedgehog
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Dhx37
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Diseases
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Disorders Of Sex Development
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Dna Sequencing
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Dsd
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Genetic Aspects
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Genetic Variation
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Methods
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Observations
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Sex Determination
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Side Chain Cleavage Enzyme
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Doaj Directory Of Open Access Journals
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Road: Directory Of Open Access Scholarly Resources
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Elektronische Zeitschriftenbibliothek (Open Access)
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Oxford University Press Journals All Titles (1996-Current)
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Pubmed Central
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