Výsledky vyhledávání - "C.L.M. Marcelis"

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Alagille-syndroom: klinische en genetische aspecten

Autor: U. Moog, Ph. Forget, C.L.M. Marcelis

Publikováno v: Tijdschrift voor Kindergeneeskunde, 71(2), 57-62. Bohn Stafleu van Loghum

Het Alagille-syndroom (ags, omim *118450) is een autosomaal dominante aandoening die lever, hart, ogen, skelet en andere organen betreft. Hoofdkenmerken zijn typerende gelaatstrekken, een tekort aan intrahepatische galwegen (pilbd) dat tot een chroni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4007a213f52f97223d31d62a0da7b750
https://doi.org/10.1007/BF03061460

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Autor: Albert J.H. Janssen, C.L.M. Marcelis, A.E. Ivanova, Alfons J. M. Stams

Publikováno v: Biodegradation. 14:173-182

Anaerobic enrichment cultures obtained from oil fields degraded various thiophenic compounds i.e. thiophene, benzothiophene and dibenzothiophene, with the concomitant formation of sulphide using hydrogen, lactate and ethanol as possible electron dono

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::02abfbbe8311d8490840f2a40c8d5949
https://doi.org/10.1023/a:1024264216363

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Model description of dibenzothiophene mass transfer in oil/water dispersions with respect to biodesulfurization

Autor: Gatze Lettinga, C.L.M Marcelis, M. van Leeuwen, Albert J.H. Janssen, H.G Polderman

Publikováno v: Biochemical Engineering Journal 16 (2003) 3
Biochemical Engineering Journal, 16(3), 253-264

A mathematical model was developed in order to describe the mass transfer rate of dibenzothiophene within the oil droplet to the oil/water interface of droplets created in a stirred tank reactor. The mass transfer rate of dibenzothiophene was calcula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b386e2f9530e3e92678943e4fe8b3c
https://doi.org/10.1016/s1369-703x(03)00041-x

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Akademický článek

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De novo ?pure? partial trisomy (6)(p22.1?pter) in a chromosome 15 with an enlarged satellite, identified by microdissection

Autor: M.G.P. Alofs, C.L.M. Marcelis, W.H. Loneus, C.F.M. Pulles-Heintzberger, J. J. M. Engelen, A. J. H. Hamers

Publikováno v: American Journal of Medical Genetics. 99:48-53

We report on a newborn boy with a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, facial anomalies and unilateral hydronephrosis. Cytogenetic analysis showed extra chromosomal material on the short arm of one

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::91e8e2fd9dccb9ab0e0de35fa7d9517c
https://doi.org/10.1002/1096-8628(20010215)99:1<48::aid-ajmg1128>3.0.co

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Mosaic telomeric (2;14) association in a child with motor delay

Autor: M.G.P. Alofs, J. Herbergs, J. Weber, A. J. H. Hamers, J. C. M. Albrechts, C.L.M. Marcelis, J. J. M. Engelen

Publikováno v: American Journal of Medical Genetics. 92:318-321

In a 6-year-old girl referred because of mild motor delay and hyperextensible joints, chromosome analysis disclosed a derivative chromosome consisting of end-to-end fusion of chromosomes 2 and 14. Two cell lines existed in which this telomere associa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0254c00a3fd5635279796feeafcce334
https://doi.org/10.1002/1096-8628(20000619)92:5<318::aid-ajmg5>3.0.co

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Lipase Mediated Resolution of γ-Branched Chain Fatty Acid Methyl Esters

Autor: A. de Sousa Teixeira, N.W.J.T. Heinsman, Maurice C. R. Franssen, Jaap A. Jongejan, A. van der Padt, Ae. de Groot, S.C. Orrenius, C.L.M. Marcelis

Publikováno v: Scopus-Elsevier

Kinetic resolution of the branched chain fatty acid (BCFA) esters 4-methylhexanoic acid methyl ester (4) and 4-methyloctanoic acid methyl ester (5) was investigated using a series of hydrolases as catalysts. In the transesterification of these methyl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::985f2ae88ca6058f9da6a5b27701b1b0
https://doi.org/10.3109/10242429809003618

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The Currarino triad: neurosurgical considerations

Autor: L.W.E. van Heurn, Gauke Kootstra, R.G.H. Beets-Tan, C.L.M. Marcelis, Emile A. M. Beuls, Pieter J. Emans, J. van Aalst, Johan S.H. Vles

Publikováno v: Neurosurgery, 58(5), 924-929; discu. Oxford University Press
Neurosurgery, 58, 924-9
Neurosurgery, 58, 5, pp. 924-9

OBJECTIVES: The Currarino triad, a relatively uncommon hereditary disorder, is often associated with tethered cord and anterior myelomeningocele. Little is known of the implications of these neuroanatomic malformations or of the neurosurgical attitud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8387778c1865616f5ff9c2c254ae84ff
https://cris.maastrichtuniversity.nl/en/publications/4c3576c2-f27a-485a-a3b1-7d520c232b4b

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