Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Andre P. Abbes"'
Publikováno v:
Journal of Laboratory Medicine, Vol 44, Iss 6, Pp 357-359 (2020)
Autor:
Annuska Strunk, Jan S. A. G. Schouten, W. Ludo van der Pol, Henny H. Lemmink, Andre P. Abbes, Inge Cuppen, Antoine R. Stuitje, Fay Lynn Asselman, Henk Engel, Chris Hettinga, Reinier Snetselaar, Eline M. Sepers
Publikováno v:
International Journal of Neonatal Screening, 5(2)
International Journal of Neonatal Screening
Volume 5
Issue 2
International Journal of Neonatal Screening, Vol 5, Iss 2, p 21 (2019)
International journal of neonatal screening, 5(2):21. MDPI AG
International Journal of Neonatal Screening
Volume 5
Issue 2
International Journal of Neonatal Screening, Vol 5, Iss 2, p 21 (2019)
International journal of neonatal screening, 5(2):21. MDPI AG
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant mortality with an incidence of 1:10,000. The recently-introduced antisense oligonucleotide treatment improves the outcome of this disease, in particular when applied at an e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34deb54251797cbe73fcfd540fb7ecae
https://dspace.library.uu.nl/handle/1874/388440
https://dspace.library.uu.nl/handle/1874/388440
Autor:
Andre P. Abbes, Theresia M. Westers, Arjan A. van de Loosdrecht, Annuska Strunk, Guus Westra, Martine E.D. Chamuleau, Pino J. Poddighe, Tom G. H. Wiggers, Ellen Kuiper-Kramer
Publikováno v:
Cytometry Part B: Clinical Cytometry. 86:280-287
The strongest prognostic factor in chronic B-cell lymphocytic leukemia (CLL) is the mutational status of the immunoglobulin heavy chain variable region (IGHV) genes. Determination of this mutational status is laborious and therefore not applied in ro
Autor:
R. Zalm, J. Peter H. Burbach, Henk Engel, Erica L T van den Akker, Marga Nijenhuis, Andre P. Abbes, A.A.M. Franken, David de Wied
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 86:3410-3420
Familial neurohypophysial diabetes insipidus (FNDI) is an autosomal dominant trait in which expression of a mutant vasopressin prohormone reduces vasopressin production. We investigated the NP85 Cys→Gly mutant vasopressin prohormone in a large kind
Autor:
Marco R. De Groot, Anton A.M. Franken, Valentijn R. Drexhage, Bennie Bruggeman, Andre P. Abbes, Henk Engel, Erica L T van den Akker
Publikováno v:
Clinical Chemistry. 46:1699-1702
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare autosomal dominant inherited disease, characterized by serious polyuria and polydipsia, caused by deficient neurosecretion of the antidiuretic hormone, arginine vasopressin (AVP). Vasopres
Autor:
Tom G H, Wiggers, Guus, Westra, Theresia M, Westers, Andre P, Abbes, Annuska, Strunk, Ellen, Kuiper-Kramer, Pino, Poddighe, Arjan A, van de Loosdrecht, Martine E D, Chamuleau
Publikováno v:
Cytometry. Part B, Clinical cytometry.
The strongest prognostic factor in chronic B-cell lymphocytic leukaemia (CLL) is the mutational status of the immunoglobulin heavy chain variable region (IGHV) genes. Determination of this mutational status is laborious and therefore not applied in r
Autor:
Martin J. W. IJsseldijk, Andre P. Abbes, Ellen C. Dompeling, Henk Engel, Annuska Strunk, Bert Dikkeschei, Robbert J. Slingerland, Jasper A. Remijn, Philip G. de Groot
Publikováno v:
Clinical Chemical Laboratory Medicine. 45
Background: The platelet adenosine 5'-diphosphate (ADP) receptor P2Y 12 plays a crucial role in haemostasis. Only a few patients with haemorrhagic diathesis due to molecular defects in the P2Y 12 receptor have been described so far. We report a novel
Autor:
Jan Danneberg, Jan Gerrits, Alexander Martens, Henk Engel, Andre P. Abbes, Ben J. M. Bruggeman
Publikováno v:
Clinical Chemistry. 44:349-351
1 Prothrombin (coagulation factor II) is the precursor of thrombin, which participates as a serine protease (factor II) in the coagulation cascade. Thrombin is essential in the processes of hemostasis and thrombosis (1)(2)(3). The gene that codes for
Autor:
Andre P. Abbes, J. P. H. Burbach, Gábor L. Kovács, E.L.T. van den Akker, D. de Wied, Henk Engel, J. Bruins, A.A.M. Franken
Publikováno v:
Psychoneuroendocrinology. 31(1)
Familial neurohypophysial diabetes insipidus (FNDI) is caused by a defect in vasopressin synthesis and release as a result of a heterozygous mutation in the gene for the vasopressin prohormone. The predominant characteristic of FNDI is excessive thir