Zobrazeno 1 - 8
of 8
pro vyhledávání: '"H. Y. Kroes"'
Autor:
H. Y. Kroes, Gepke Visser, D. Wittebol-Post, H. M. Engbers, R. Van Empelen, R. H. J. M. Gooskens, R. A. J. Nievelstein, O. Braams, M. M. W. B. Hendriks
Publikováno v:
European Journal of Neurology. 17:815-822
Introduction: Neuroimaging of the brain in the diagnostic work-up of patients with neurodevelopmental disorders is a matter of continuing debate. Recommendations range from performing brain imaging in all patients with neurodevelopmental disorders to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d718a038ed2b53a8fada9c013cda1da
https://doi.org/10.1111/j.1468-1331.2009.02927.x
https://doi.org/10.1111/j.1468-1331.2009.02927.x
Autor:
M. Verschuren, H. Y. Kroes, J. M. de Pater, J. C. M. Albrechts, A. C. C. van Oppen, John J.M. Engelen
Publikováno v:
Prenatal Diagnosis. 25:151-155
Objective Our objective was to characterise a marker chromosome in cultured amniocytes of a fetus with a mos 47,XX,+mar[3]/46,XX[14] karyotype. Methods The indication for prenatal cytogenetic analysis of cultured amniocytes was advanced maternal age.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0ba343f56e072f841590e483f9e88
https://doi.org/10.1002/pd.1097
https://doi.org/10.1002/pd.1097
Autor:
H M, Engbers, R A J, Nievelstein, R H J M, Gooskens, H Y, Kroes, R, van Empelen, O, Braams, D, Wittebol-Post, M M W B, Hendriks, G, Visser
Publikováno v:
European journal of neurology. 17(6)
Neuroimaging of the brain in the diagnostic work-up of patients with neurodevelopmental disorders is a matter of continuing debate. Recommendations range from performing brain imaging in all patients with neurodevelopmental disorders to performing an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::846e97d6abd3e534dd6fe06ebf3b8c60
https://pubmed.ncbi.nlm.nih.gov/20113335
https://pubmed.ncbi.nlm.nih.gov/20113335
Autor:
Paul Cullen, M. Schreiner, H. O. F. Molhuizen, A. Mischke, Jürgen Geisel, Michael Walter, Harald Funke, H. Y. Kroes, H. W. Hahmann, John J.P. Kastelein, A. von Eckardstein, Stephan Rust, Gerd Assmann, R. Hordijk
Publikováno v:
Nature genetics, 20(1), 96-98. Nature Publishing Group
Nature Genetics, 20(1), 96-98. Nature Publishing Group
Nature Genetics, 20(1), 96-98. Nature Publishing Group
A low level of high density lipoprotein (HDL) cholesterol is a strong predictor of ischaemic heart disease (IHD) and myocardial infarction(1-3). One cause of low HDL-cholesterol is Tangier disease (TD), an autosomal codominant inherited condition fir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e581e58bb8872e66128ce506bfe3bd21
https://doi.org/10.1038/1770
https://doi.org/10.1038/1770
Publikováno v:
Clinical genetics. 63(3)
A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::370901ee8851cc66d3039cd09317a26f
https://pubmed.ncbi.nlm.nih.gov/12694234
https://pubmed.ncbi.nlm.nih.gov/12694234
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 31(2), 156-158. BMJ PUBLISHING GROUP
We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e3944ee0ac5b2fcd22ec6dc0acb831
https://research.rug.nl/en/publications/168a0e6b-c5af-469c-8615-1d0b4aabf95a
https://research.rug.nl/en/publications/168a0e6b-c5af-469c-8615-1d0b4aabf95a
Publikováno v:
Tijdschrift voor kindergeneeskunde. 60(6)
Until 1989 carrier detection in families with cystic fibrosis (CF) took place by means of linkage analysis with polymorphic DNA markers. This is an indirect method to demonstrate carriership. For linkage analysis it is often essential that there is p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e81cc6293154c49905f99c365d890a7c
https://pubmed.ncbi.nlm.nih.gov/1488735
https://pubmed.ncbi.nlm.nih.gov/1488735
Publikováno v:
Human Genetics. 104:C360-C360
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::570cb0bff6d8a6cee5dfe4b28e7dd88e
https://doi.org/10.1007/pl00008717
https://doi.org/10.1007/pl00008717