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Browsing by Author Oost, B.A. van

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Showing results 1 to 25 of 25
Full TextIssue DateTitleAuthor(s)
2009High-resolution genetic mapping of mammalian motor activity levels in mice.Kas, M.J.; Mooij-van Malsen, J.G. de; Krom, M. de; Gassen, K.L.I. van; Lith, H.A. van, et al
1997Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutationHochberg, Z.; Lieburg, A.F. van; Even, L.; Brenner, B.; Lanir, N., et al
1996Molecular genetic analysis in mild hyperhomocysteinemia : a common mutation in the methylene-tetrahydrofolate reductase gene is a genetic risk factor for cardiovascular diseaseKluijtmans, L.A.J.; Heuvel, L.P.W.J. van den; Boers, G.H.J.; Frosst, P.; Stevens, E.M.B., et al
1996Molecular genetics analysis in mild hyperhomocysteinemia : a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular diseaseKluijtmans, L.A.J.; Heuvel, L.P.W.J. van den; Boers, G.H.J.; Frosst, P.; Stevens, E.M.B., et al
1996Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutationCoo, I.F.M. de; Smeets, H.J.M.; Gabreëls, F.J.M.; Arts, N.J.M.; Oost, B.A. van
1996Nieuwe inzichten in de moleculaire oorzaken van nefrogene diabetes insipidusKnoers, N.V.A.M.; Lieburg, A.F. van; Oost, B.A. van; Os, C.H. van; Deen, P.M.T., et al
1996A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch familySistermans, E.A.; Wijs, I.J. de; Coo, R.F.M. de; Smit, L.M.E.; Menko, F.H., et al
1996Aquaporins : from physiology to nephrogenic diabetes insipidusKnoers, N.V.A.M.; Lieburg, A.F. van; Monnens, L.A.H.; Oost, B.A. van; Deen, P.M.T., et al
1996Benign mitochondrial encephalomyopathy in a patient with complex I deficiency.Trijbels, J.M.F.; Ruitenbeek, W.; Sengers, R.C.A.; Janssen, A.J.M.; Oost, B.A. van
1996Molecular genetic analysis in mild hyperhomocysteinemia : a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular diseaseKluijtmans, L.A.J.; Heuvel, L.P.W.J. van den; Boers, G.H.J.; Frosst, P.; Stevens, E.M.B., et al
1996Benign familial hematuria due to mutation of the type IV collagen alpha-4 geneLemmink, H.H.; Nillesen, W.N.; Mochizuki, T.; Schröder, C.H.; Brunner, H.G., et al
1996Nieuwe inzichten in de moleculaire oorzaken van nefrogene diabetes insipidusKnoers, N.V.A.M.; Lieburg, A.F. van; Oost, B.A. van; Os, C.H. van; Deen, P.M.T., et al
1995Two novel missense mutations in the cysthathionine beta-synthese gene in homocystinuric patients.Kluijtmans, L.A.J.; Blom, H.J.; Boers, G.H.J.; Oost, B.A. van; Trijbels, J.M.F., et al
1995Two novel missense mutations in the cysthathionine ß-synthase gene in homocystinuric patientsKluijtmans, L.A.J.; Blom, H.J.; Boers, G.H.J.; Oost, B.A. van; Trijbels, J.M.F., et al
1995Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutationLieburg, A.F. van; Verdijk, M.A.J.; Schoute, F.; Ligtenberg, M.J.L.; Oost, B.A. van, et al
1995Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patientsKluijtmans, L.A.J.; Blom, H.J.; Boers, G.H.J.; Oost, B.A. van; Trijbels, F.J.M., et al
1995Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinLigtenberg, M.J.L.; Kemp, S.; Sarde, C.O.; Geel, B.M. van; Kleijer, W.J., et al
1995Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiencyHageman, A.T.M.; Gabreëls, F.J.M.; Jong, J.G.N. de; Gabreëls-Festen, A.A.W.M.; Berg, C.J.M.G. van den, et al
1995The Gene for Hereditary Bullous Dystrophy, X-Linked Macular Type, Maps to the Xq27.3-Qter RegionWijker, M.; Ligtenberg, M.J.L.; Schoute, F.; Defesche, J.C.; Pals, G., et al
1995Molecular cloning and characterization of the active human mitochondrial NADH : Ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogeneCoo, I.F.M. de; Buddiger, P.A.L.; Smeets, H.J.M.; Geurts van Kessel, A.H.M.; Morgan-Hughes, J., et al
1995Two novel missense mutations in the cystathionine -beta-synthase gene in homocystinuric patientsKluijtmans, L.A.J.; Blom, H.J.; Boers, G.H.J.; Oost, B.A. van; Trijbels, J.M.F., et al
1995Two intronic mutations in the adrenoleukodystrophy geneKemp, S.; Ligtenberg, M.J.L.; Geel, B.M. van; Barth, P.G.; Sarde, C.O., et al
1995Een familie met de autosomaal dominante Spinocerebellaire ataxie (SCAI)Coo, I.F.M. de; Beerendonk, H.M. van; Domburg, P.H.M.F. van; Oost, B.A. van
1995Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type-2 receptor mutationLieburg, A.F. van; Verdijk, M.A.J.; Schoute, F.; Ligtenberg, M.J.L.; Oost, B.A. van, et al
1995The gene for Hereditary Bullous dystrophy, X-linked Macular Type, maps to the Xq27.3-qter regionWijker, M.; Ligtenberg, M.J.L.; Schoute, F.; Defesche, J.C.; Pals, G., et al
Showing results 1 to 25 of 25

 

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