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Search Results - Carvalho, Julienne A.R.
Search Results - Carvalho, Julienne A.R.
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Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita
by
Zhang, Yao-Hua
,
Huang, Bing-Ling
,
Anyane-Yeboa, Kwame
,
Carvalho, Julienne A.R.
,
Clemons, Robert D.
,
Cole, Trevor
,
De Figueiredo, Bonald C.
,
Lubinsky, Mark
,
Metzger, Daniel L.
,
Quadrelli, Roberto
,
Repaske, David R.
,
Reyno, Soraya
,
Seaver, Laurie H.
,
Vaglio, Alicia
,
Van Vliet, Guy
,
McCabe, Linda L.
,
McCabe, Edward R.B.
,
Phelan, James K.
Published in
Human mutation
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In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a sin...
by
De Lacerda, Luiz
,
Carvalho, Julienne A. R.
,
Stannard, Bethel
,
Werner, Haim
,
Boguszewski, Margaret C. S.
,
Sandrini, Romolo
,
Malozowski, Saul N.
,
LeRoith, Derek
,
Underwood, Louis E.
Published in
Clinical endocrinology (Oxford)
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Nine novel mutations inNR0B1 (DAX1) causing adrenal hypoplasia congenita
by
Zhang, Yao-Hua
,
Huang, Bing-Ling
,
Anyane-Yeboa, Kwame
,
Carvalho, Julienne A.R.
,
Clemons, Robert D.
,
Cole, Trevor
,
De Figueiredo, Bonald C.
,
Lubinsky, Mark
,
Metzger, Daniel L.
,
Quadrelli, Roberto
,
Repaske, David R.
,
Reyno, Soraya
,
Seaver, Laurie H.
,
Vaglio, Alicia
,
Van Vliet, Guy
,
McCabe, Linda L.
,
McCabe, Edward R.B.
,
Phelan, James K.
Published in
Human mutation
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Peer Reviewed
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Journal Title
Human Mutation
2 results
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Clinical Endocrinology
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Subjects
Humans
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Adrenal Hypoplasia Congenita
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Adrenal Insufficiency - Congenital
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Adrenal Insufficiency - Genetics
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1
Ahc
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Biological And Medical Sciences
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Blotting, Southern
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Cells, Cultured
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Child, Preschool
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Chromosome Aberrations
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Chromosomes, Human, Pair 15
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Codon, Nonsense
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1
Dax-1 Orphan Nuclear Receptor
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Dax1
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Dna - Chemistry
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Dna - Genetics
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Dna Mutational Analysis
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Dna-Binding Proteins - Genetics
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Endocrinology & Metabolism
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Female
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Wiley Online Library Backfiles Complete
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Access Via Wiley Online Library
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Wiley Online Library Open Access
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Access Via Proquest (Open Access)
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Wiley:jisc Collections:wiley Read And Publish Open Access 2024-2025 (Reading List)
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