檢索結果 - Alexander A.L. Jorge

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  1. 1
    Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency

    Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency 由 Alexander A.L. Jorge

    出版 2017
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  2. 2
    Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene

    Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene 由 Alexander A.L. Jorge

    出版 2002
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  3. 3
    Response to Letter to the Editor: “IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy”

    Response to Letter to the Editor: “IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy” 由 Gabriela A. Vasques, Alexander A.L. Jorge

    出版 2019
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  4. 4
    Investigação de baixa estatura: aspectos clínicos, laboratoriais e moleculares da insensibilidade ao hormônio de crescimento

    Investigação de baixa estatura: aspectos clínicos, laboratoriais e moleculares da insensibilidade ao hormônio de crescimento 由 Alexander A.L. Jorge, Maria Adelaide Albergaria Pereira

    出版 2008
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  5. 5
    Bringing endocrine basic science and physician investigators together

    Bringing endocrine basic science and physician investigators together 由 Magnus R. Dias‐da‐Silva, Alexander A.L. Jorge

    出版 2010
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  6. 6
    Tratamento com hormônio de crescimento: aspectos moleculares, clínicos e terapêuticos

    Tratamento com hormônio de crescimento: aspectos moleculares, clínicos e terapêuticos 由 Evandro Portes, Alexander A.L. Jorge, Carlos Eduardo Martinelli

    出版 2008
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  7. 7
    Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants

    Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants 由 Marilena Nakaguma, Alexander A.L. Jorge, Ivo J.P. Arnhold

    出版 2018
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  8. 8
    eP151: Outcomes in growth hormone-treated Noonan syndrome children: Impact of PTPN11 variant status

    eP151: Outcomes in growth hormone-treated Noonan syndrome children: Impact of PTPN11 variant status 由 Alexander A.L. Jorge, Alberto Pietropoli, Nicky Kelepouris, Reiko Horikawa

    出版 2022
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  9. 9
    Deficiência da STAT5B: uma nova síndrome de insensibilidade ao hormônio de crescimento associada a acometimento imunológico

    Deficiência da STAT5B: uma nova síndrome de insensibilidade ao hormônio de crescimento associada a acometimento imunológico 由 Renata C. Scalco, Patricia N Pugliese-Pires, Alexander A.L. Jorge

    出版 2013
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  10. 10
    Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders

    Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders 由 Gabriela A. Vasques, Ivo J.P. Arnhold, Alexander A.L. Jorge

    出版 2014
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  11. 11
    MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature

    MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature 由 Edoarda Vasco de Albuquerque Albuquerque, Renata C. Scalco, Alexander A.L. Jorge

    出版 2017
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  12. 12
    Genetic causes of isolated short stature

    Genetic causes of isolated short stature 由 Gabriela A. Vasques, Nathalia Liberatoscioli Menezes De Andrade, Alexander A.L. Jorge

    出版 2019
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  13. 13
    Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway

    Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway 由 Alexander A.L. Jorge, Alexsandra C. Malaquias, Ivo J.P. Arnhold, Berenice B. Mendonça

    出版 2009
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  14. 14
    Frequency of genetic polymorphisms of PXR gene in the Brazilian population

    Frequency of genetic polymorphisms of PXR gene in the Brazilian population 由 Ricardo P.P. Moreira, Alexander A.L. Jorge, Berenice B. Mendonça, Tânia A.S.S. Bachega

    出版 2011
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  15. 15
    Modelos matemáticos para previsão de resposta ao tratamento com hormônio de crescimento

    Modelos matemáticos para previsão de resposta ao tratamento com hormônio de crescimento 由 Everlayny F. Costalonga, Alexander A.L. Jorge, Berenice B. Mendonça, Ivo J.P. Arnhold

    出版 2008
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  16. 16
    Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene

    Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene 由 Alexander A.L. Jorge, S. C. A. L. Souza, Ivo J.P. Arnhold, Berenice B. Mendonça

    出版 2002
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  17. 17
    Update on new GH-IGF axis genetic defects

    Update on new GH-IGF axis genetic defects 由 Gabriela A. Vasques, Nathalia Liberatoscioli Menezes De Andrade, Fernanda A. Correa, Alexander A.L. Jorge

    出版 2019
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  18. 18
    Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome

    Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome 由 Erik Trovão Diniz, Alexander A.L. Jorge, Ivo J.P. Arnhold, Arlan L. Rosenbloom, Francisco Bandeira

    出版 2008
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  19. 19
    Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development

    Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development 由 Luciana Ribeiro Montenegro, Antônio Marcondes Lerário, Mirian Yumie Nishi, Alexander A.L. Jorge, Berenice B. Mendonça

    出版 2021
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  20. 20
    Role of GLI2 in hypopituitarism phenotype

    Role of GLI2 in hypopituitarism phenotype 由 Ivo J.P. Arnhold, Marcela M. França, Luciani R. Carvalho, Berenice B. Mendonça, Alexander A.L. Jorge

    出版 2015
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