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51

Understanding the low uptake of presymptomatic DNA testing for Huntington's disease

Tibben, A, Niermeijer, M.F, Roos, R.A.C, Van De Vlis, M.Vegter, Frets, P.G, Van Ommen, G.J.B, Van De Kamp, J.J.P, Verhage, F

Journal:

Year:

1992

Language:

english

File:

PDF, 172 KB

english, 1992

52

A patient with neurofibromatosis type 1 and watery diarrhea syndrome dut to a VIP producing adrenal phaeochromocytoma

Vroom, T. M., van Gils, A. P.G., Lips, C. J.M., Niermeijer, P.

Journal:

European Journal of Gastroenterology & Hepatology

Year:

1999

File:

PDF, 107 KB

1999

53

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

Dr. Ans M. W. van den Ouweland, Bert B. A. de Vries, P. Lida G. Bakker, Wout H. Deelen, Esther de Graaff, Jan O. van Hemel, Ben A. Oostra, Martinus F. Niermeijer, Dicky J. J. Halley

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 450 KB

english, 1994

54

Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi

W. J. Kleijer, L. M. Iiussaarts-Odijk, E. S. Sachs, M. G. J. Jahoda, M. F. Niermeijer

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 282 KB

english, 1987

55

Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods

W. J. Kleijer, E. Veer, M. F. Niermeijer

Journal:

Year:

1976

Language:

english

File:

PDF, 477 KB

english, 1976

56

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy

Shackleton, Sue, Lloyd, David J., Jackson, Stephen N.J., Evans, Richard, Niermeijer, Martinus F., Singh, Baldev M., Schmidt, Hartmut, Brabant, Georg, Kumar, Sudesh, Durrington, Paul N.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 245 KB

english, 2000

57

Pyridoxin dependent epilepsy: Clinical features and progressive serial MRI abnormalities

J.M.F. Niermeijer, N.G. Abeling, J.H. Koelman…

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

58

Endocrinologic Disorders and Optic Pathway Gliomas in Children With Neurofibromatosis Type 1

Cnossen, M. H., Stam, E. N., Cooiman, L. C. M. G., Simonsz, H. J., Stroink, H., Oranje, A. P., Halley, D. J. J., de Goede-Bolder, A., Niermeijer, M. F., Keizer-Schrama, S. M. P. F. d. M.

Journal:

Year:

1997

Language:

english

File:

PDF, 406 KB

english, 1997

59

Sense of Competence in a Dutch Sample of Informal Caregivers of Frontotemporal Dementia Patients

Riedijk, Samantha, Duivenvoorden, Hugo, Van Swieten, John, Niermeijer, Martinus, Tibben, Aad

Journal:

Dementia and Geriatric Cognitive Disorders

Year:

2009

Language:

english

File:

PDF, 157 KB

english, 2009

60

Four-year outcome after early withdrawal of antiepileptic drugs in childhood epilepsy

Geerts, A. T., Niermeijer, J.M.F., Peters, A. C.B., Arts, W. F.M., Brouwer, O. F., Stroink, H., Peeters, E. A.J., van Donselaar, C. A.

Journal:

Year:

2005

Language:

english

File:

PDF, 376 KB

english, 2005

61

INTERMITTENT NEUROLOGICAL SYMPTOMS IN A GIRL WITH A MAPLE SYRUP URINE DISEASE (MSUD) VARIANT

Holmgren, G., Brundin, A., Gustavson, K., Sjögren, S., Kleijer, W., Niermeijer, M.

Journal:

Neuropediatrics

Year:

1980

Language:

english

File:

PDF, 131 KB

english, 1980

62

Characteristics of the postcounseling reproductive decision-making process: An explorative study

Petra G. Frets, Frans Verhage, Martinus F. Niermeijer

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 709 KB

english, 1991

63

β-Mannosidase in human leukocytes and fibroblasts

R. S. Panday, O. P. van Diggelen, W. J. Kleijer, M. F. Niermeijer

Journal:

Journal of Inherited Metabolic Disease

Year:

1984

Language:

english

File:

PDF, 250 KB

english, 1984

64

Propofol in status epilepticus: little evidence, many dangers?

Jikke-MienF. Niermeijer, CunoS.P.M. Uiterwaal, CeesA. Donselaar

Journal:

Journal of Neurology

Year:

2003

Language:

english

File:

PDF, 189 KB

english, 2003

65

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

Tayebi, Nahid, Sidransky, Ellen, Stone, Deborah L, Diggelen, Otto P van, Klerk, Johannis BC de, Gaillard, Johannes LJ, Niermeijer, Martinus F, Willemsen, Rob

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 673 KB

english, 1999

66

Geschiedenis van de klinische genetica

M. F. Niermeijer

Journal:

Year:

2011

Language:

dutch

File:

PDF, 226 KB

dutch, 2011

67

The course of distress in women at increased risk of breast and ovarian cancer due to an (identified) genetic susceptibility who opt for prophylactic mastectomy and/or salpingo-oophorectomy

P.J.C. Bresser, C. Seynaeve, A.R. Van Gool, M.F. Niermeijer, H.J. Duivenvoorden, S. van Dooren, A.N. van Geel, M.B. Menke-Pluijmers, J.G.M. Klijn, A. Tibben

Journal:

European Journal of Cancer

Year:

2007

Language:

english

File:

PDF, 135 KB

english, 2007

68

Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q

Bert B.A. de Vries, Willem F.M. Arts, Guido J. Breedveld, Jeannette J.M. Hoogeboom, Martinus F. Niermeijer, Peter Heutink

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 99 KB

english, 2000

69

FIRST TRIMESTER CHROMOSOMAL ANALYSIS OF COMPLEX STRUCTURAL REARRANGEMENTS WITH RHA BANDING ON CHORIONIC VILLI

Sachs, E.S., Van Hemel, J.O., Galjaard, H., Niermeijer, M.F., Jahoda, M.G.J.

Journal:

Year:

1983

Language:

english

File:

PDF, 194 KB

english, 1983

70

Preparing for presymptomatic DNA testing for early onset Alzheimer's disease/cerebral haemorrhage and hereditary Pick disease.

Tibben, A, Stevens, M, de Wert, G M, Niermeijer, M F, van Duijn, C M, van Swieten, J C

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.96 MB

english, 1997

71

Males at–risk for the BRCA1-1ene, the psychological impact

A. C. Dudok de Wit, A. Tibben, P. G. Frets, E. J. Meijers-Heijboer, P. Devilee, M. F. Niermeijer

Journal:

Psycho-Oncology

Year:

1996

Language:

english

File:

PDF, 566 KB

english, 1996

72

Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez

M.W. Wessels, N.S. den Hollander, T.E. Cohen-Overbeek, M.S. Lesnik Oberstein, R.M. Nash, J.W. Wladimiroff, M.F. Niermeijer, P.J. Willems

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 192 KB

english, 2002

73

Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13

J. F. Andel, C. E. Catsman-Berrevoets, D. J. J. Halley, E. Swaay, M. F. Niermeijer, B. A. Oostra

Journal:

Year:

1991

Language:

english

File:

PDF, 271 KB

english, 1991

74

The fragile-X syndrome: a growing gene causing familial intellectual disability

L. B. A. DE VRIES, D. J. J. HAULEY, B. A. OOSTRA, M. F. NIERMEIJER

Journal:

Journal of Intellectual Disability Research

Year:

1994

Language:

english

File:

PDF, 1.99 MB

english, 1994

75

Screening with the FMR1 protein test among mentally retarded males

B. B. A. de Vries, Serieta Mohkamsing, Ans M. W. van den Ouweland, Dicky J. J. Halley, Martinus F. Niermeijer, Ben A. Oostra, Rob Willemsen

Journal:

Year:

1998

Language:

english

File:

PDF, 56 KB

english, 1998

76

Anti- TPO detectable in children with encephalopathy: diagnostic marker or a chance finding?

B Dontje, JM Niermeijer, D Schonenberg…

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

77

Prenatal ultrasonographic diagnosis of osteogenesis imperfecta

Brons, Jozien T.J., van der Harten, Hans J., Wladimiroff, Juri W., van Geijn, Herman P., Dijkstra, Piet F., Exalto, Niek, Reuss, Annette, Niermeijer, Martinus F., Meijer, Chris J.L.M., Arts, Nico F.Th

Journal:

American Journal of Obstetrics and Gynecology

Year:

1988

Language:

english

File:

PDF, 809 KB

english, 1988

78

Thermotolerance induced by heat and ethanol

Boon-niermeijer, Elida K., Souren, Jan E. M., De Waal, Adrienne M., Wijk, Roeland van

Journal:

International Journal of Hyperthermia

Year:

1988

Language:

english

File:

PDF, 876 KB

english, 1988

79

Correlation Between Clinical and Histologic Findings in the Human Neonatal Hippocampus After Perinatal Asphyxia

Schiering, Irene A.M., de Haan, Timo R., Niermeijer, Jikke-Mien F., Koelman, Johannes H., Majoie, Charles B.L.M., Reneman, Liesbeth, Aronica, Eleonora

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2014

Language:

english

File:

PDF, 5.12 MB

english, 2014

80

A prospective 10 year follow up study of patients with neurofibromatosis type 1

Cnossen, M H, de Goede-Bolder, A, van den Broek, K M, Waasdorp, C M E, Oranje, A P, Stroink, H, Simonsz, H J, van den Ouweland, A M W, Halley, D J J, Niermeijer, M F

Journal:

Archives of Disease in Childhood

Year:

1998

Language:

english

File:

PDF, 166 KB

english, 1998

81

Reproductive planning after genetic counselling: a perspective from the last decade

Petra G. Frets, Martinus F. Niermeijer

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 871 KB

english, 1990

82

Essential Medical Genetics

Niermeijer, M. F

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 269 KB

english, 1997

83

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation

Vries, B. B A d., Robinson, H., Stolte-Dijkstra, I., Gi, C. V T. P., Dijkstra, P. F, Doorn, J. v., Halley, D. J J, Oostra, B. A, Turner, G., Niermeijer, M. F

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.47 MB

english, 1995

84

Intragenic probe used for diagnostics in fragile X families

Annemieke J. M. H. Verkerk, Bert B. A. De Vries, Martinus F. Niermeijer, Ying-Hui Fu, David L. Nelson, Stephen T. Warren, Danielle F. Majoor-Krakauer, Dicky J. J. Halley, Dr. Ben A. Oostra

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 377 KB

english, 1992

85

Prenatal diagnosis of morquio's disease type a (n-acetylgalactosamine 6-sulphate sulphatase deficiency)

Kurt Von Figura, J. J. Van De Kamp, Martinus F. Niermeijer

Journal:

Prenatal Diagnosis

Year:

1982

Language:

english

File:

PDF, 183 KB

english, 1982

86

An unexpected high frequency of trisomic fetuses in 229 pregnancies monitored for advanced maternal age

E. S. Sachs, M. G. J. Jahoda, M. F. Niermeijer, H. Galjaard

Journal:

Year:

1977

Language:

english

File:

PDF, 194 KB

english, 1977

87

Elimination of mycoplasmas from infected cell cultures by combined trypsin/antibiotics treatment

O. P. van Diggelen, M. F. Niermeijer

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 191 KB

english, 1986

88

The cystic fibrosis defect approached from different angles — new perspectives on the gene, the chloride channel, diagnosis and therapy

D. J. J. Halley, J. Bijman, H. R. de Jonge, M. Sinaasappel, H. J. Neijens, M. F. Niermeijer

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 952 KB

english, 1990

89

Diagnostic delay in neurofibromatosis type 1

M. H. Cnossen, F. J. Smit, A. de Goede-Bolder, P. G. Frets, H. J. Duivenvoorden, M. F. Niermeijer

Journal:

European Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

90

Thermosensitivity during embryonic development of Lymnaea stagnalis (Mollusca)

Elida K. Boon-Niermeijer, Henri van de Scheur

Journal:

Journal of Thermal Biology

Year:

1984

Language:

english

File:

PDF, 1.34 MB

english, 1984

91

Prenatal diagnosis of sialidosis with combined neuraminidase and ø-galactosidase deficiency

W. J. Kleijer, A. Hoogeveen, F. W. Verheijen, M. F. Niermeijer, H. Galjaard, J. S. O'Brien, T. G. Warner

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 138 KB

english, 1979

92

Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)

M. C. B. Loonen, A. W. Schram, J. F. Koster, M. F. Niermeijer, H. F. M. Busch, J. J. Martin, B. Brouwer-Kelder, W. Mekes, R. G. Slee, J. M. Tager

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 538 KB

english, 1981

93

Testing for Huntington's disease with support for all parties

Tibben, A., VEGTER-V.D.VLIS, M., Niermeijer, M.F., Kamp, J.J.P.V.D., Roos, R.A.C., Rooijmans, H.G.M., Frets, P.G., Verhage, F.

Journal:

Year:

1990

Language:

english

File:

PDF, 169 KB

english, 1990

94

Familial aggregation in frontotemporal dementia

Stevens, M., van Duijn, C. M., Kamphorst, W., de Knijff, P., Heutink, P., van Gool, W. A., Scheltens, P., Ravid, R., Oostra, B. A., Niermeijer, M. F., van Swieten, J. C.

Journal:

Year:

1998

Language:

english

File:

PDF, 681 KB

english, 1998

95

Phenotypic Variation in a Family with Partial Androgen Insensitivity Syndrome Explained by Differences in 5α Dihydrotestosterone Availability

Boehmer, Annemie L. M., Brinkmann, Albert O., Nijman, Rien M., Verleun-Mooijman, Marja C. T., de Ruiter, Petra, Niermeijer, Martinus F., Drop, Stenvert L. S.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2001

Language:

english

File:

PDF, 447 KB

english, 2001

96

Consanguiniteit en morbiditeit bij allochtone kinderen

M. M. van Haelst, I. Kulu-Glasgow, M. F. Niermeijer, T. W. J. Schulpen

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2001

Language:

dutch

File:

PDF, 88 KB

dutch, 2001

97

Complex compulsive behaviour in the temporal variant of frontotemporal dementia

Sonia M. Rosso, Gerwin Roks, Martijn Stevens, Inge de Koning, Herve L. J. Tanghe, Wouter Kamphorst, Rivka Ravid, Martinus F. Niermeijer, John C. van Swieten

Journal:

Journal of Neurology

Year:

2001

Language:

english

File:

PDF, 269 KB

english, 2001

98

Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassay

D. A. Aitken, W. J. Kleijer, M. F. Niermeijer, E. Herbschleb-Voogt, H. Galjaard

Journal:

Clinical Genetics

Year:

1980

Language:

english

File:

PDF, 409 KB

english, 1980

99

Prognosis of polyneuropathy due to IgM monoclonal gammopathy: A prospective cohort study

Niermeijer, J.M.F., Fischer, K., Eurelings, M., Franssen, H., Wokke, J. H.J., Notermans, N. C.

Journal:

Year:

2010

Language:

english

File:

PDF, 519 KB

english, 2010

100

96/02904 - Renewable energy in the next century

Journal:

Fuel and Energy Abstracts

Year:

1996

Language:

english

File:

PDF, 144 KB

english, 1996

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