Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Gabriele Wildhardt"'
Publikováno v:
Diabetes aktuell. 12:366-371
Diabetes mellitus (DM) ist eine symptomatische Beschreibung eines heterogenen Krankheitsgeschehens mit einem gemeinsamen Leitsymptom: einem mehr oder minder ausgepragten erhohten Blutzuckerspiegel (Hyperglykamie). Die meisten Formen und Falle eines D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2cc1e042a3f30a90eb7dfeb1d6fae964
https://doi.org/10.1055/s-0034-1543993
https://doi.org/10.1055/s-0034-1543993
Autor:
Clemens Müller-Reible, Ute Hehr, Gabriele Wildhardt, Dieter Gläser, Hanns-Georg Klein, Ulrich Finckh, Hanno Joern Bolz, Peter Bauer
Publikováno v:
OBM Genetics. 2:1-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::874f1f078e7704d7c678178a6b1e7e48
https://doi.org/10.21926/obm.genet.1802019
https://doi.org/10.21926/obm.genet.1802019
Publikováno v:
Cornea. 25:614-617
Purpose: To describe a case of severe corneal granular dystrophy with clinicopathologic and molecular genetic findings. Methods: The DNAs of a 53-year-old male patient suffering from corneal granular dystrophy and nonaffected family members was analy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33222080a2b8c582a6851befd59bb2d6
https://doi.org/10.1097/01.ico.0000214202.84081.a5
https://doi.org/10.1097/01.ico.0000214202.84081.a5
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 88:2916-2921
Pendred's syndrome, an autosomal-recessive condition characterized by congenital sensorineural hearing loss and goiter, is caused by mutations in the PDS gene. Located on chromosome 7q22-q31, it encodes a chloride-iodide transporter expressed in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5f3d0f04344553107d7cf023e0eeb3
https://doi.org/10.1210/jc.2002-021334
https://doi.org/10.1210/jc.2002-021334
Autor:
Gabriele Wildhardt, Oliver Bartsch, Axel Bohring, Gertrud Strobl-Wildemann, Markus Suckfüll, Juliane Wechtenbruch, Annegret Buske, Marie T. Greally, Christian Kubisch, Stefanie Vogt, Birgit Zirn, Daniela Steinberger, Luitgard Graul-Neumann
Publikováno v:
BMJ Open
Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d80378beec3c5ebc6e678b02894e352
http://europepmc.org/articles/PMC3612789
http://europepmc.org/articles/PMC3612789
Publikováno v:
Rheumatology international. 30(6)
Hereditary periodic fever syndromes (HPFSs) are a subset of human autoinflammatory diseases characterized by periodic episodes of fever and signs of inflammation with or without involvement of inner organs. In this paper, we report phenotypic feature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eab3eb8ec8724a2eb7eda09cc99211b
https://pubmed.ncbi.nlm.nih.gov/19823838
https://pubmed.ncbi.nlm.nih.gov/19823838
Autor:
Daniela Steinberger, Jutta Trübenbach, Gabriele Wildhardt, Ulrich Müller, Barbara Leube, Birgit Zirn
Publikováno v:
Neurogenetics. 8(1)
We applied multiple ligation-dependent probe amplification (MLPA) to patients from three families with characteristic dopa-responsive dystonia (DRD) but no base change in the gene GCH1. We found a complete deletion of GCH1 in affected members of fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df12bf7bf6a486e09f94940f784dae45
https://pubmed.ncbi.nlm.nih.gov/17111153
https://pubmed.ncbi.nlm.nih.gov/17111153
Autor:
Joachim Pohlenz, Eckhard Korsch, Gerhard Koch, Gabriele Wildhardt, Güler Özer, A. Kemal Topaloglu, Guntram Borck, Neslihan Önenli-Mungan, Samuel Refetoff, Bilgin Yüksel, Neal H. Scherberg, Roland Pfäffle, Ulrich Aumann, Ursula Martiné
WOS: 000223072400081 PubMed ID: 15292359 Isolated TSH deficiency is a rare cause of congenital hypothyroidism. We here report four children from two consanguineous Turkish families with isolated TSH deficiency. Affected children who were screened at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cac1eabb8555623a64f0c31506be8f7
https://hdl.handle.net/20.500.12605/7405
https://hdl.handle.net/20.500.12605/7405
