Výsledky vyhledávání

Applicability of Hop Distance in Random Sensor Networks

Autor: Theo M. Hupkens, Oscar John Somsen, Raymundo R. Hordijk

Publikováno v: Wireless Personal Communications. 67:257-269

Future sensor networks may be composed of a large number of low cost sensors, also known as "smart-dust". A simple measure for the distance between any two sensors is the number of re-broadcasts that is necessary to send a message between them. We wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b425663632f401f0e0bf44043a1f780d
https://doi.org/10.1007/s11277-011-0376-6

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Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

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

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

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Three cases of mosaicism for balanced reciprocal translocations

Autor: B, Leegte, B, Sikkema-Raddatz, R, Hordijk, K, Bouman, T, van Essen, S, Castedo, B, de Jong

Publikováno v: American journal of medical genetics. 79(5)

Mosaicism for a balanced reciprocal translocation (BRTM) is rare. As far as we know only 26 cases of BRTM, demonstrated in lymphocyte cultures, have been described, five of which had an abnormal phenotype. Prenatally three confirmed cases with a norm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4ad525b512d47765fcbae45c6dad0e0f
https://pubmed.ncbi.nlm.nih.gov/9779802

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Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience

Autor: JHAM Tuerlings, HF de France, A Hamers, R Hordijk, JO Van Hemel, K Hansson, JMN Hoovers, K Madan, M Van Der Blij-Philipsen, KBJ Gerssen-Schoorl, JAM Kremer, DFCM Smeets

Publikováno v: European Journal of Human Genetics, 6, 194-200
European Journal of Human Genetics, 6, pp. 194-200
European journal of human genetics, 6(3), 194-200. Nature Publishing Group

The chance of a male with severe oligozoospermia or azoospermia achieving a pregnancy has undergone a revolutionary increase with the introduction of the intracytoplasmic sperm injection technique (ICSI). However, since ICSI circumvents part of the n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9888029f30632592dc366364c1d77987
http://hdl.handle.net/2066/224452

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Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance

Autor: R, Hordijk, F, Van de Logt, W A, Houtman, A J, Van Essen

Publikováno v: Genetic counseling (Geneva, Switzerland). 7(2)

We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS). Our report extends the phenotypic spectrum of autosomal dominant CDMMS by describing microphthalmia for the first time in an autosomal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1fd19b66884cf2cba37354b21f65eed5
https://pubmed.ncbi.nlm.nih.gov/8831130

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Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

Autor: N. R. P. Folkers, H. Y. Kroes, L.P. ten Kate, Joep H. A. M. Tuerlings, R. Hordijk

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

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[Late diagnosis of classical galactosemia. An adult with special biochemistry]

Autor: J J, Weits-Binnerts, R, Hordijk, G P, Smit, E, van der Veer, D J, Reijngoud, R, Berger

Publikováno v: Tijdschrift voor kindergeneeskunde. 61(5)

The atypical case history of a galactosemic patient who was not recognized as such until his 22nd year is described. As in classical galactosemia there was not found any galactose-1-phosphate uridyl transferase activity in the erythrocytes. However,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::29c4ba20aced18a43115d8d31f5620a9
https://pubmed.ncbi.nlm.nih.gov/8266315

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