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Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

Acta neurologica Scandinavica, 2016-05, Vol.133 (5), p.361-366

2016

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Primary familial brain calcification linked to deletion of 5’ noncoding region of SLC20A2

Acta neurologica Scandinavica, 2017-07, Vol.136 (1), p.59-63

2017

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Neuroimaging and neurological outcome of children with acute encephalitis

Developmental medicine and child neurology, 2022-10, Vol.64 (10), p.1262-1269

2022

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Decreased bone mineral density and content in neurofibromatosis. type 1: Lowest local values are located in the load-carrying parts of the body

Osteoporosis international, 2005-08, Vol.16 (8), p.928-936

2005

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The effect of dietary counselling on food intakes in pregnant women at risk for gestational diabetes: a secondary analysis of a randomised controlled trial RADIEL

European journal of clinical nutrition, 2016-08, Vol.70 (8), p.912-917

2016

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APOE and AGT in the Finnish p.Arg133Cys CADASIL population

Acta neurologica Scandinavica, 2015-12, Vol.132 (6), p.430-434

2015

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A prospective, randomized study of goal-oriented hemodynamic therapy in cardiac surgical patients

Anesthesia and analgesia, 2000-05, Vol.90 (5), p.1052-1059

2000

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The effect of carbon dioxide, respiratory rate and tidal volume on human heart rate variability

Acta anaesthesiologica Scandinavica, 2004-01, Vol.48 (1), p.93-101

2004

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A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in northern Finland

Journal of medical genetics, 2000-12, Vol.37 (12), p.e43-43

POYHONEN, M

2000

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Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)

Neurology, 2002-09, Vol.59 (5), p.759

2002

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Cardiorespiratory fitness and health‐related quality of life in women at risk for gestational diabetes

Scandinavian journal of medicine & science in sports, 2018-01, Vol.28 (1), p.203-211

2018

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Effects of sympatholytic therapy on postmenopausal symptoms in hypertensive postmenopausal women

Climacteric : the journal of the International Menopause Society, 2014-08, Vol.17 (4), p.356-362

2014

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Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing

Acta dermato-venereologica, 2014-01, Vol.94 (6), p.663-666

2014

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Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1

Neurology, 2003-11, Vol.61 (10), p.1397

2003

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CADASIL and CARASIL

Brain pathology (Zurich, Switzerland), 2014-09, Vol.24 (5), p.525-544

2014

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A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Nature medicine, 1998-04, Vol.4 (4), p.452-455

1998

Volltextzugriff (PDF)

Loss of SUFU Function in Familial Multiple Meningioma

American journal of human genetics, 2012-09, Vol.91 (3), p.520-526

2012

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Molecular genetic and clinical findings in identical twins with CADASIL

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, Vol.283 (1), p.294-294

2009

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Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation

Stroke (1970), 2001-08, Vol.32 (8), p.1767-1774

2001

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Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Frontiers in immunology, 2019-12, Vol.10, p.2770-2770

2019

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Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

Brain (London, England : 1878), 2009-04, Vol.132 (4), p.933-939

2009

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Genetic factors modify the clinical course of CADASIL

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, Vol.283 (1), p.294-294

2009

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Correspondence between the molecular genetic analysis and electron microscopic detection of granular osmiophilic material in CADASIL

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, Vol.283 (1), p.293-294

2009

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Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

American journal of human genetics, 1998-06, Vol.62 (6), p.1544-1548

1998

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On the convergence of multiattribute weighting methods

European journal of operational research, 2001-03, Vol.129 (3), p.569-585

2001

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Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

Primary familial brain calcification linked to deletion of 5’ noncoding region of SLC20A2

Neuroimaging and neurological outcome of children with acute encephalitis

Decreased bone mineral density and content in neurofibromatosis. type 1: Lowest local values are located in the load-carrying parts of the body

The effect of dietary counselling on food intakes in pregnant women at risk for gestational diabetes: a secondary analysis of a randomised controlled trial RADIEL

APOE and AGT in the Finnish p.Arg133Cys CADASIL population

A prospective, randomized study of goal-oriented hemodynamic therapy in cardiac surgical patients

The effect of carbon dioxide, respiratory rate and tidal volume on human heart rate variability

A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in northern Finland

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)

Cardiorespiratory fitness and health‐related quality of life in women at risk for gestational diabetes

Effects of sympatholytic therapy on postmenopausal symptoms in hypertensive postmenopausal women

Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing

Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1

CADASIL and CARASIL

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Loss of SUFU Function in Familial Multiple Meningioma

Molecular genetic and clinical findings in identical twins with CADASIL

Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

Genetic factors modify the clinical course of CADASIL

Correspondence between the molecular genetic analysis and electron microscopic detection of granular osmiophilic material in CADASIL

Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

On the convergence of multiattribute weighting methods

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