検索結果 - Denise Rockstroh
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Evidence of Early Alterations in Adipose Tissue Biology and Function and Its Association With Obesity-Related Inflammation and Insulin Resistance in Children 著者: Kathrin Landgraf, Denise Rockstroh, Isabel Viola Wagner, Sebastian Weise, Roy Tauscher, Julian Tristan Schwartze, Dennis Löffler, U. Bühligen, Magdalena Wojan, Holger Till, Jürgen Kratzsch, Wieland Kieß, Matthias Blüher, Antje Körner
出版事項 2014Artigo -
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Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation 著者: Jürgen Klammt, David Neumann, Evelien Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sánchez, Doris Vokurková, Julia Kowalczyk, Lou Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul Dattani, Andrew Dauber, Vivian Hwa
出版事項 2018Artigo -
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High-throughput splicing assays identify missense and silent splice-disruptive<i>POU1F1</i>variants underlying pituitary hormone deficiency 著者: Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh-Lippold, Sebastián Vishnopolska, Frédéric Castinetti, Mariam Maksutova, Luciani R. Carvalho, Julia Hoppmann, Julian Martinez-Mayer, F. Albarel, Débora Braslavsky, Ana Keselman, Ignacio Bergadá, Marcelo A. Martí, Alexandru Saveanu, Anne Barlier, Rami Abou Jamra, Michael H. Guo, Andrew Dauber, Marilena Nakaguma, Berenice B. Mendonça, Ayse Bilge Ozel, Qing Fang, Qianyi Ma, Jun Z. Li, Thierry Brue, María Inés Pérez‐Millán, Jacob O. Kitzman, Ivo J.P. Arnhold, Roland Pfaeffle, Sally A. Camper
出版事項 2021Pré-impressão -
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High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency 著者: Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh-Lippold, Sebastián Vishnopolska, Frédéric Castinetti, Mariam Maksutova, Luciani R. Carvalho, Julia Hoppmann, Julian Martinez-Mayer, F. Albarel, Débora Braslavsky, Ana Keselman, Ignacio Bergadá, Marcelo A. Martí, Alexandru Saveanu, Anne Barlier, Rami Abou Jamra, Michael H. Guo, Andrew Dauber, Marilena Nakaguma, Berenice B. Mendonça, Sajini Jayakody, Ayse Bilge Ozel, Qing Fang, Qianyi Ma, Jun Z. Li, Thierry Brue, María Inés Pérez‐Millán, Ivo J.P. Arnhold, Roland Pfaeffle, Jacob O. Kitzman, Sally A. Camper
出版事項 2021Artigo
関連主題
Biology
Endocrinology
Gene
Genetics
Missense mutation
Adipose tissue
Alternative splicing
Gene isoform
Hypopituitarism
Internal medicine
Intron
Medicine
Mutation
Obesity
Overweight
Phenotype
RNA
RNA splicing
Repressor
Transcription factor
splice
Adipocyte
Adiponectin
Brown adipose tissue
Cancer research
Cell biology
Childhood obesity
Gene expression
Germline
Germline mutation