نتائج البحث - Johannes Weigel
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<i>PROP1</i>Mutations Cause Progressive Deterioration of Anterior Pituitary Function including Adrenal Insufficiency: A Longitudinal Analysis حسب A Böttner, Eberhard Keller, Jürgen Kratzsch, H Stobbe, Johannes Weigel, Alexandra Keller, W. Hirsch, Wieland Kieß, Werner Blum, Roland Pfäffle
منشور في 2004Artigo -
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Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E حسب Eva Klopocki, Bianca P. Hennig, Katarina Dathe, Randi Koll, Thomy de Ravel, Emiel Baten, Eveline W Blom, Y. Gillerot, Johannes Weigel, Gabriele Krüger, Olaf Hiort, Petra Seemann, Stefan Mundlos
منشور في 2010Artigo -
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Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies حسب Roland Pfaeffle, Chad S. Hunter, Jesse J. Savage, Mario Durán‐Prado, Rachel D. Mullen, Zachary P. Neeb, Urs Eiholzer, V. Hesse, Nadine Haddad, H Stobbe, Werner Blum, Johannes Weigel, Simon J. Rhodes
منشور في 2007Artigo -
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Newborn screening and disease variants predict neurological outcome in isovaleric aciduria حسب Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, René Santer, Holger Blessing, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arélin, Julia B. Hennermann, Thorsten Marquardt, Iris Marquardt, Peter Freisinger, Johannes Krämer, Andrea Dieckmann, Natalie Weinhold, Mareike Keller, Magdalena Walter, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker
منشور في 2021Artigo
أدوات البحث:
موضوعات ذات صلة
Internal medicine
Medicine
Biology
Endocrinology
Genetics
Gene
Hormone
Anterior pituitary
Missense mutation
Mutation
Pituitary gland
Adrenal function
Adrenal insufficiency
Brachydactyly
Chondrocyte
Cognition
Cohort
Cohort study
Decompensation
Disease
Environmental health
Function (biology)
Gene expression
Homeobox
In vitro
Inborn error of metabolism
LIM domain
Neurocognitive
Newborn screening
Nonsense mutation