खोज परिणाम - John C. Achermann

परिणाम को परिष्कृत करें
  1. 1
    Steroidogenic Factor-1 <i>(SF-1, Ad4BP, NR5A1)</i> and Disorders of Testis Development

    Steroidogenic Factor-1 <i>(SF-1, Ad4BP, NR5A1)</i> and Disorders of Testis Development द्वारा Lucy Lin, John C. Achermann

    प्रकाशित 2008
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
    सूची में सहेजें
    में बचाया:
  2. 2
    Primary adrenal insufficiency: New genetic causes and their long‐term consequences

    Primary adrenal insufficiency: New genetic causes and their long‐term consequences द्वारा Federica Buonocore, John C. Achermann

    प्रकाशित 2019
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    Revisão
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    में बचाया:
  3. 3
    Steroidogenic Factor-1 and Human Disease

    Steroidogenic Factor-1 and Human Disease द्वारा Ranna El‐Khairi, John C. Achermann

    प्रकाशित 2012
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    Revisão
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    में बचाया:
  4. 4
    A Naturally Occurring Steroidogenic Factor-1 Mutation Exhibits Differential Binding and Activation of Target Genes

    A Naturally Occurring Steroidogenic Factor-1 Mutation Exhibits Differential Binding and Activation of Target Genes द्वारा Masafumi Ito, John C. Achermann, J. Larry Jameson

    प्रकाशित 2000
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    Artigo
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    में बचाया:
  5. 5
    Steroidogenic factor-1 (SF-1, NR5A1) and human disease

    Steroidogenic factor-1 (SF-1, NR5A1) and human disease द्वारा Bruno Ferraz‐de‐Souza, Lin Lin, John C. Achermann

    प्रकाशित 2010
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    Revisão
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    में बचाया:
  6. 6
    DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

    DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease द्वारा Jenifer P. Suntharalingham, Federica Buonocore, Andrew Duncan, John C. Achermann

    प्रकाशित 2015
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    Revisão
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    में बचाया:
  7. 7
    Mitochondrial disease and endocrine dysfunction

    Mitochondrial disease and endocrine dysfunction द्वारा Jasmine Chow, Joyeeta Rahman, John C. Achermann, Mehul Dattani, Shamima Rahman

    प्रकाशित 2016
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    Revisão
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    में बचाया:
  8. 8
    Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

    Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant द्वारा Federica Buonocore, Sinead McGlacken‐Byrne, Ignacio del Valle, John C. Achermann

    प्रकाशित 2020
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    Revisão
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    में बचाया:
  9. 9
    X-Linked Adrenal Hypoplasia Congenita: A Mutation in<i>DAX1</i>Expands the Phenotypic Spectrum in Males and Females<sup>1</sup>

    X-Linked Adrenal Hypoplasia Congenita: A Mutation in<i>DAX1</i>Expands the Phenotypic Spectrum in Males and Females<sup>1</sup> द्वारा Stephanie B. Seminara, John C. Achermann, Myron Genel, J. Larry Jameson, William F. Crowley

    प्रकाशित 1999
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    A Homozygous R262Q Mutation in the Gonadotropin-Releasing Hormone Receptor Presenting as Constitutional Delay of Growth and Puberty with Subsequent Borderline Oligospermia

    A Homozygous R262Q Mutation in the Gonadotropin-Releasing Hormone Receptor Presenting as Constitutional Delay of Growth and Puberty with Subsequent Borderline Oligospermia द्वारा Lin Lin, Gerard S. Conway, Nathan R. Hill, Mehul Dattani, Peter C. Hindmarsh, John C. Achermann

    प्रकाशित 2006
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    Artigo
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    में बचाया:
  11. 11
    Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience

    Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience द्वारा Lin Lin, Wen-Xia Gu, Gökhan Özışık, Wing S. To, Catherine Owen, J. Larry Jameson, John C. Achermann

    प्रकाशित 2006
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  12. 12
    Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies

    Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies द्वारा Marie‐Klaire Farrugia, Neil J. Sebire, John C. Achermann, A. Eisawi, P.G. Duffy, Imran Mushtaq

    प्रकाशित 2012
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    Artigo
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    में बचाया:
  13. 13
    Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)

    Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR) द्वारा Taninee Sahakitrungruang, Raymond E. Soccio, Mariarosaria Lang‐Muritano, Joanna Walker, John C. Achermann, Walter L. Miller

    प्रकाशित 2010
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    Artigo
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    में बचाया:
  14. 14
    Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

    Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study द्वारा Pascal Philibert, Delphine Zénaty, Lin Lin, S. Soskin, Françoise Audran, Juliane Léger, John C. Achermann, C. Sultan

    प्रकाशित 2007
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    Artigo
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    में बचाया:
  15. 15
    Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

    Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner द्वारा John C. Achermann, Gökhan Özışık, Masafumi Ito, Utku Arman Örün, Koray Harmancı, Berkan Gürakan, J. Larry Jameson

    प्रकाशित 2002
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    Artigo
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    में बचाया:
  16. 16
    Holistic management of DSD

    Holistic management of DSD द्वारा Caroline Brain, Sarah Creighton, Imran Mushtaq, Polly Carmichael, Angela Barnicoat, John W. Honour, Victor Larcher, John C. Achermann

    प्रकाशित 2010
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    Revisão
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    में बचाया:
  17. 17
    Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia

    Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia द्वारा Bo Y. Baker, Lin Lin, Chan Jong Kim, Jamal Raza, Claire Smith, Walter L. Miller, John C. Achermann

    प्रकाशित 2006
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    Artigo
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    में बचाया:
  18. 18
    Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

    Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling द्वारा Sara Tomaselli, Francesca Megiorni, Lin Lin, Maria Cristina Mazzilli, Dianne Gerrelli, Silvia Majore, Paola Grammatico, John C. Achermann

    प्रकाशित 2011
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    Artigo
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    में बचाया:
  19. 19
    Variable Phenotypes Associated with Aromatase (<i>CYP19</i>) Insufficiency in Humans

    Variable Phenotypes Associated with Aromatase (<i>CYP19</i>) Insufficiency in Humans द्वारा Lin Lin, Oya Ercan, Jamal Raza, Christine Burren, Sarah Creighton, Richard J. Auchus, Mehul Dattani, John C. Achermann

    प्रकाशित 2006
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    Artigo
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    में बचाया:
  20. 20
    An Alternate Translation Initiation Site Circumvents an Amino-Terminal DAX1 Nonsense Mutation Leading to a Mild Form of X-Linked Adrenal Hypoplasia Congenita

    An Alternate Translation Initiation Site Circumvents an Amino-Terminal DAX1 Nonsense Mutation Leading to a Mild Form of X-Linked Adrenal Hypoplasia Congenita द्वारा Gökhan Özışık, Giovanna Mantovani, John C. Achermann, Luca Persani, Anna Spada, Jeffrey Weiss, Paolo Beck‐Peccoz, J. Larry Jameson

    प्रकाशित 2003
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    Artigo
    सूची में सहेजें
    में बचाया:

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