Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the youngBEIJERS, H. J. B. H; LOSEKOOT, M; ODINK, R. J et al.Diabetic medicine. 2009, Vol 26, Num 11, pp 1172-1174, issn 0742-3071, 3 p.Article

Experience in prenatal testing for Huntington's disease in The Netherlands : Procedures, results and guidelines (1987-1997)MAAT-KIEVIT, A; VEGTER-VAN DER VLIS, M; ZOETEWEIJ, M et al.Prenatal diagnosis. 1999, Vol 19, Num 5, pp 450-457, issn 0197-3851Article

Detection of K-ras mutations by denaturing gradient gel electrophoresis (DGGE) : a study on pancreatic cancerPELLEGATA, N. S; LOSEKOOT, M; FODDE, R et al.Anticancer research. 1992, Vol 12, Num 5, pp 1731-1735, issn 0250-7005Article

A new AvaII RFLP in the human α-globin gene clusterFODDE, R; HARTEVELD, C. L; VAN HEEREN, H et al.Nucleic acids research. 1990, Vol 18, Num 10, issn 0305-1048, p. 3104Article

Monozygotic twin brothers with the fragile X syndrome : different CGG repeats and different mental capacitiesHELDERMAN-VAN DEN ENDEN, A. T. J. M; MAASWINKEL-MOOIJ, P. D; HOOGENDOORN, E et al.Journal of medical genetics. 1999, Vol 36, Num 3, pp 253-257, issn 0022-2593Article

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutationsWIJNEN, J; MEERA KHAN, P; VASEN, H et al.American journal of human genetics. 1997, Vol 61, Num 2, pp 329-335, issn 0002-9297Article

α-Thalassemia in The Netherlands : a heterogeneous spectrum of both deletions and point mutationsHARTEVELD, K. L; LOSEKOOT, M; HEISTER, A. J. G. A. M et al.Human genetics. 1997, Vol 100, Num 3-4, pp 465-471, issn 0340-6717Article

A novel polyadenylation signal mutation in the α₂-globin gene causing α thalassaemiaHARTEVELD, C. L; LOSEKOOT, M; HAAK, H et al.British journal of haematology. 1994, Vol 87, Num 1, pp 139-143, issn 0007-1048Article

Rapid identification by denaturing gradient gel electrophoresis of mutations in the γ-globin gene promoters in non-deletion type HPFHGOTTARDI, E; LOSEKOOT, M; FODDE, R et al.British journal of haematology. 1992, Vol 80, Num 4, pp 533-538, issn 0007-1048Article

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysisKLEIJER, W. J; VAN DIGGELEN, O. P; LOS, F. J et al.Prenatal diagnosis. 2001, Vol 21, Num 2, pp 99-101, issn 0197-3851Article

Family history and DNA analysis in patients with suspected Huntington's diseaseSIESLING, S; DE VLIS, M. V.-V; LOSEKOOT, M et al.Journal of neurology, neurosurgery and psychiatry. 2000, Vol 69, Num 1, pp 54-59, issn 0022-3050Article

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysisDE VRIES, B. B. A; KLEIJER, W. J; TASCHNER, P. E. M et al.Prenatal diagnosis. 1999, Vol 19, Num 6, pp 559-562, issn 0197-3851Article

Prenatal diagnosis of the fragile X syndrome : loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locusLOSEKOOT, M; HOOGENDOORN, E; BAKKER, E et al.Journal of medical genetics. 1997, Vol 34, Num 11, pp 924-926, issn 0022-2593Article

Multiple recombination events are responsible for the heterogeneity of α⁺-thalassemia haplotypes among the forest tribes of Andhra Pradesh, IndiaFODDE, R; HARTEVELD, C. L; LOSEKOOT, M et al.Annals of human genetics. 1991, Vol 55, pp 43-50, issn 0003-4800, 8 p., p.1Article

A novel frameshift mutation [FSC 47 (+A)] causing β-thalassemia in a Surinam patientLOSEKOOT, M; FODDE, R; VAN HEEREN, H et al.Hemoglobin. 1990, Vol 14, Num 4, pp 467-470, issn 0363-0269, 4 p.Article

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunitVAN DUYVENVOORDE, H. A; KEMPERS, M. J. E; TWICKLER, Th. B et al.European journal of endocrinology. 2008, Vol 159, Num 2, pp 113-120, issn 0804-4643, 8 p.Article

Paradox of a better test for Huntington's diseaseMAAT-KIEVIT, A; VEGTER-VAN DER VLIS, M; ZOETEWEIJ, M et al.Journal of neurology, neurosurgery and psychiatry. 2000, Vol 69, Num 5, pp 579-583, issn 0022-3050Article

Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and -α^3.7 deletions with HbC heterozygosityGIORDANO, P. C; HARTEVELD, C. L; MICHIELS, J. J et al.British journal of haematology. 1997, Vol 96, Num 4, pp 801-805, issn 0007-1048Article

Huntington's disease : report on four Saudi familiesBOHLEGA, S; MCLEAN, D; AL KAWI, M. Z et al.Saudi medical journal. 1996, Vol 17, Num 4, pp 456-460, issn 0379-5284Article

Inversions in the factor VIII gene : improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A familiesDEUTZ-TERLOUW, P. P; LOSEKOOT, M; OLMER, R et al.Journal of medical genetics. 1995, Vol 32, Num 4, pp 296-300, issn 0022-2593Article

Rapid detection of the highly polymorphic β globin framework by denaturing gradient gel electrophoresisLOSEKOOT, M; VAN HEEREN, H; SCHIPPER, H. J et al.Journal of medical genetics. 1992, Vol 29, Num 8, pp 574-577, issn 0022-2593Article

Interaction of two different disorders in the β-globin gene cluster associated with an increased hemoglobin F production : a novel deletion type of ^Gγ + (^Aγδβ)°-thalassemia and a δ°-hereditary persistence of fetal hemoglobin determinantLOSEKOOT, M; FODDE, R; GERRITSEN, E. J. A et al.Blood. 1991, Vol 77, Num 4, pp 861-867, issn 0006-4971, 7 p.Article