Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Britta, Seebauer"'
Autor:
David Atac, Lucas Mohn, Silke Feil, Kevin Maggi, Dominik Haenni, Britta Seebauer, Samuel Koller, Wolfgang Berger
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1053 (2022)
Basic helix–loop–helix (bHLH) transcription factors are evolutionarily conserved and structurally similar proteins important in development. The temporospatial expression of atonal bHLH transcription factor 7 (ATOH7) directs the differentiation o
Externí odkaz:
https://doaj.org/article/69a4175b9d494a97992f9d85c8daf3f9
Autor:
Susanne C Beck, Yuxi Feng, Vithiyanjali Sothilingam, Marina Garcia Garrido, Naoyuki Tanimoto, Niyazi Acar, Shenliang Shan, Britta Seebauer, Wolfgang Berger, Hans-Peter Hammes, Mathias W Seeliger
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0178753 (2017)
Loss of Norrin signalling due to mutations in the Norrie disease pseudoglioma gene causes severe vascular defects in the retina, leading to visual impairment and ultimately blindness. While the emphasis of experimental work so far was on the developm
Externí odkaz:
https://doaj.org/article/120f311049c64ceca8394ad333f61a26
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:1299-1303
Thyroid dyshormonogenesis (TDH) is characterized by the defective synthesis of thyroid hormones. We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decrea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8099e0d2813fcd5dfb70380e572e7857
https://doi.org/10.1515/jpem-2019-0051
https://doi.org/10.1515/jpem-2019-0051
Autor:
Britta Seebauer, Johnny Deladoëy, Xavier De Deken, Gabrielle Dufort, Gabor Szinnai, Karl Heinimann, Dardye Eugene, Sébastien Lévesque, Stéphanie Larrivée-Vanier, Guy Van Vliet, Serge Gravel
Publikováno v:
Thyroid
Six patients are described with bi-allelic DUOX2 variants and widely variable phenotypes. Patient 1 is an infant with a compressive hypothyroid goiter causing respiratory distress, which was promptly alleviated by levothyroxine (LT4). He was a compou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c41912ad81e5a1cd98c83a2990f2bea8
https://doi.org/10.1089/thy.2018.0461
https://doi.org/10.1089/thy.2018.0461
Autor:
Gabrielle, Dufort, Stéphanie, Larrivée-Vanier, Dardye, Eugène, Xavier, De Deken, Britta, Seebauer, Karl, Heinimann, Sébastien, Lévesque, Serge, Gravel, Gabor, Szinnai, Guy, Van Vliet, Johnny, Deladoëy
Publikováno v:
Thyroid : official journal of the American Thyroid Association. 29(7)
Six patients are described with bi-allelic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3be91b382cd05903c97622ff8e2641fd
https://pubmed.ncbi.nlm.nih.gov/31532729
https://pubmed.ncbi.nlm.nih.gov/31532729
Autor:
Hans-Peter Landolt, Wolfgang Berger, Britta Seebauer, Amandine Valomon, Thomas Müller, Sebastian C. Holst
Publikováno v:
Scientific Reports
Scientific Reports, 7
Scientific Reports, 7
Sleep deprivation impairs cognitive performance and reliably alters brain activation in wakefulness and sleep. Nevertheless, the molecular regulators of prolonged wakefulness remain poorly understood. Evidence from genetic, behavioral, pharmacologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16672a59594007efb69a0d1ba88eddfd
Autor:
James V M Hanson, Hannes Wildberger, Christina Gerth-Kahlert, S Dold, Britta Seebauer, A Spörri, H van Waes, Wolfgang Berger
Sir, Jalili syndrome1 is a rare autosomal-recessive disorder, which is caused by mutations in the CNNM4 gene.2, 3 Two phenotypes are proposed: associated with bull's eye maculopathy and peripheral retinal degeneration (type A), or with minor retinal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97395d349e9db576134c419eed9d035
https://doi.org/10.5167/uzh-111476
https://doi.org/10.5167/uzh-111476
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