Zobrazeno 1 - 10
of 10
pro vyhledávání: '"H. T. Brüggenwirth"'
Autor:
Marcel G.J. Tilanus, Christien Voorter, M. Groeneweg, Anita Vreugdenhil, Marlou P. M. Adriaanse, S.J.A.M. Castelijns, C.K. van der Ent, H. T. Brüggenwirth
Publikováno v:
Tissue Antigens. 83:27-31
Cystic fibrosis (CF) is classically attributed to the dysfunction of the single CF transmembrane conductance regulator gene. The incidence of human leukocyte antigen (HLA) polymorphisms in different CF-associated diseases raises the question of an un
Autor:
M P M, Adriaanse, A C E, Vreugdenhil, M, Groeneweg, H T, Brüggenwirth, S J A M, Castelijns, C K, van der Ent, C E M, Voorter, M G J, Tilanus
Publikováno v:
Tissue antigens. 83(1)
Cystic fibrosis (CF) is classically attributed to the dysfunction of the single CF transmembrane conductance regulator gene. The incidence of human leukocyte antigen (HLA) polymorphisms in different CF-associated diseases raises the question of an un
Autor:
Y G, van der Zwan, H T, Brüggenwirth, S L S, Drop, K P, Wolffenbuttel, G C, Madern, L H J, Looijenga, J A, Visser
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 6(6)
Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous misse
Autor:
P M, Holterhus, H T, Brüggenwirth, O, Hiort, A, Kleinkauf-Houcken, K, Kruse, G H, Sinnecker, A O, Brinkmann
Publikováno v:
The Journal of clinical endocrinology and metabolism. 82(11)
Premature stop codons of the human androgen receptor (AR) gene are usually associated with a complete androgen insensitivity syndrome. We, however, identified an adult patient with a 46,XY karyotype carrying a premature stop codon in exon 1 of the AR
Autor:
Adriaanse, M. P. M.1, Vreugdenhil, A. C. E.1, Groeneweg, M.2, Brüggenwirth, H. T.3, Castelijns, S. J. A. M.4, van der Ent, C. K.5, Voorter, C. E. M.2, Tilanus, M. G. J.2
Publikováno v:
Tissue Antigens. Jan2014, Vol. 83 Issue 1, p27-31. 5p.
Publikováno v:
Virchows Archiv: European Journal of Pathology; Sep2016 Supplement, Vol. 469, p1-346, 346p
Autor:
Meijer, O., Welling, L., Valstar, M., Hoefsloot, L., Brüggenwirth, H., Ploeg, A., Ruijter, G., Wagemans, T., Wijburg, F., Vlies, N.
Publikováno v:
Journal of Inherited Metabolic Disease; May2016, Vol. 39 Issue 3, p437-445, 9p
Publikováno v:
Clinical Genetics; Dec2021, Vol. 100 Issue 6, p645-645, 1p
Proceedings of the14th European Microscopy Congress, held in Aachen, Germany, 1-5 September 2008. Jointly organised by the European Microscopy Society (EMS), the German Society for Electron Microscopy (DGE) and the local microscopists from RWTH Aache
Autor:
Bert W. O'Malley
Hormones and Signaling focuses on the mechanisms of gene regulation at the cellular level. It also describes the actions of hormones in modulating gene regulation and animal development. Glococorticoid and mineralcorticoid signaling Orphan nuclear re