Výsledky vyhledávání - Dimitrios T. Papadimitriou
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Deficit in Anterior Pituitary Function and Variable Immune Deficiency (DAVID) in Children Presenting with Adrenocorticotropin Deficiency and Severe Infections Autor Marie-Hélène Quentien, Brigitte Delemer, Dimitrios T. Papadimitriou, Pierre‐François Souchon, R. Jaussaud, Anne Pagnier, Martine Münzer, Nicolas Jullien, Rachel Reynaud, N. Galon-Faure, A Enjalbert, Anne Barlier, Thierry Brue
Vydáno 2011Artigo -
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Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies Autor Thierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, Marco Bensa, José‐Mario Capo‐Chichi, Brigitte Delemer, Aurélio Balsalobre, Christina Nassif, Dimitrios T. Papadimitriou, Anne Pagnier, Caroline Hasselmann, Lysanne Patry, Jeremy Schwartzentruber, Pierre‐François Souchon, Shinobu Takayasu, A Enjalbert, Guy Van Vliet, Jacek Majewski, Jacques Drouin, Mark E. Samuels
Vydáno 2014Artigo
Vyhledávací nástroje:
Související témata
Endocrinology
Internal medicine
Medicine
Biology
Gene
Genetics
Hormone
Aldosterone
Anterior pituitary
Antibody
Common variable immunodeficiency
Delayed puberty
Exome sequencing
Exon
Hyperkalemia
Hypogonadotrophic hypogonadism
Hypogonadotropic hypogonadism
Hypopituitarism
Hypospadias
Immune system
Immunology
Micropenis
Mineralocorticoid
Mineralocorticoid receptor
Mutation
Pediatrics
Proband
Pseudohypoaldosteronism
Sanger sequencing
Surgery