UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 34

Sortiert nach

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

EBioMedicine, 2016-05, Vol.7 (C), p.212-220

2016

Volltextzugriff (PDF)

Neurosurgical contribution within a complex NF1 supraregional service

Clinical neurology and neurosurgery, 2019-05, Vol.180, p.18-24

2019

Volltextzugriff (PDF)

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation

Neurology, 2005-10, Vol.65 (7), p.1083

2005

Volltextzugriff (PDF)

P76 The m.3291 T>C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype

Neuromuscular disorders : NMD, 2010, Vol.20, p.S25-S25

2010

Volltextzugriff (PDF)

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

Neurology, 2017-10, Vol.89 (18), p.1915

2017

Volltextzugriff (PDF)

Spinal Lesions in Neurofibromatosis Type 1: Analysis of 149 Cases

International journal of surgery (London, England), 2018-07, Vol.55, p.S1-S1

2018

Volltextzugriff (PDF)

064 An unusual cause of myelopathy in neurofibromatosis type one

Journal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.e1-e1

2012

Volltextzugriff (PDF)

Mutations in congenital myasthenic syndromes reveal an varepsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

Human molecular genetics, 2002-11, Vol.11 (24), p.3087-3096

Ealing, J.

2002

Volltextzugriff (PDF)

IDENTIFICATION AND CHARACTERISATION OF ALCOHOL-INDUCED FLUSHING IN CAUCASIAN SUBJECTS

Alcohol and alcoholism (Oxford), 1994-07, Vol.29 (4), p.433-438

1994

Volltextzugriff (PDF)

A Case of Coeliac Disease Detected via Raised 5-Hydroxytryptamine and 5-Hydroxyindoleacetic Acid

Annals of clinical biochemistry, 1997-07, Vol.34 (4), p.440-441

1997

Volltextzugriff (PDF)

Providing flexibility in spent fuel and vitrified waste management

Nuclear engineering international, 1986-10, Vol.31, p.27-33

1986

Volltextzugriff (PDF)

The influence of the Ustilago maydis REC1 gene on plasmid-chromosome recombination

Current genetics, 1992-12, Vol.22 (6), p.483-489

1992

Volltextzugriff (PDF)

Skills for the aspiring surgeon in Australia : A needs assessment

Focus on health professional education, 2023-07, Vol.24 (2), p.125-141

2023

Volltextzugriff (PDF)

Rasch analysis of the hospital anxiety and depression scale (HADS) for use in motor neurone disease

Health and quality of life outcomes, 2011-09, Vol.9 (1), p.82-82

2011

Volltextzugriff (PDF)

Plant members of a family of sulfate transporters reveal functional subtypes

Proceedings of the National Academy of Sciences - PNAS, 1995-09, Vol.92 (20), p.9373-9377

1995

Volltextzugriff (PDF)

Regulation of expression of a cDNA from barley roots encoding a high affinity sulphate transporter

The Plant journal : for cell and molecular biology, 1997-10, Vol.12 (4), p.875-884

1997

Volltextzugriff (PDF)

Measuring disability in amyotrophic lateral sclerosis/motor neuron disease: the WHODAS 2.0-36, WHODAS 2.0-32, and WHODAS 2.0-12

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2023-02, Vol.24 (1-2), p.63-70

2023

Volltextzugriff (PDF)

Correction to: Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature

Journal of neurology, 2020-03, Vol.267 (3), p.616-617

2020

Volltextzugriff (PDF)

Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2020-07, Vol.21 (5-6), p.364-372

2020

Volltextzugriff (PDF)

Acceptance and Commitment Therapy for people living with motor neuron disease: an uncontrolled feasibility study

Pilot and feasibility studies, 2023-07, Vol.9 (1), p.116-116, Article 116

2023

Volltextzugriff (PDF)

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

Familial cancer, 2019-10, Vol.18 (4), p.445-449

2019

Volltextzugriff (PDF)

Assessing social isolation in motor neurone disease: A Rasch analysis of the MND Social Withdrawal Scale

Journal of the neurological sciences, 2013-11, Vol.334 (1), p.112-118

2013

Volltextzugriff (PDF)

Management of sialorrhoea in motor neuron disease: A survey of current UK practice

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2013-12, Vol.14 (7-8), p.521-527

2013

Volltextzugriff (PDF)

1 – 25 von 34

Suche als RSS-Feed

Aktive Filter

ThemaAged

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(33)
Mit Volltextzugriff
(30)

Publikationsform

Artikel
(33)
magazinearticle
(1)

Sprache

Englisch
(34)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

Science & Technology
(24)
Life Sciences & Biomedicine
(22)
Humans
(11)
Biological And Medical Sciences
(9)
Clinical Neurology
(9)
Neurosciences & Neurology
(9)
Amyotrophic Lateral Sclerosis
(7)
Female
(6)
Fundamental And Applied Biological Sciences. Psychology
(6)
Male
(6)
Neurology
(6)
Adult
(4)
Genes
(4)
Plant Sciences
(4)
Rna
(4)
Adolescent
(3)
Amino Acid Sequence
(3)
Anxiety
(3)
Care And Treatment
(3)
Dna
(3)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

Neurosurgical contribution within a complex NF1 supraregional service

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation

P76 The m.3291 T>C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

Spinal Lesions in Neurofibromatosis Type 1: Analysis of 149 Cases

064 An unusual cause of myelopathy in neurofibromatosis type one

Mutations in congenital myasthenic syndromes reveal an varepsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

IDENTIFICATION AND CHARACTERISATION OF ALCOHOL-INDUCED FLUSHING IN CAUCASIAN SUBJECTS

A Case of Coeliac Disease Detected via Raised 5-Hydroxytryptamine and 5-Hydroxyindoleacetic Acid

Providing flexibility in spent fuel and vitrified waste management

The influence of the Ustilago maydis REC1 gene on plasmid-chromosome recombination

Skills for the aspiring surgeon in Australia : A needs assessment

Rasch analysis of the hospital anxiety and depression scale (HADS) for use in motor neurone disease

Plant members of a family of sulfate transporters reveal functional subtypes

Clinical trials in amyotrophic lateral sclerosis: a systematic review and perspective

Regulation of expression of a cDNA from barley roots encoding a high affinity sulphate transporter

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Measuring disability in amyotrophic lateral sclerosis/motor neuron disease: the WHODAS 2.0-36, WHODAS 2.0-32, and WHODAS 2.0-12

Correction to: Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature

Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF

Acceptance and Commitment Therapy for people living with motor neuron disease: an uncontrolled feasibility study

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

Assessing social isolation in motor neurone disease: A Rasch analysis of the MND Social Withdrawal Scale

Management of sialorrhoea in motor neuron disease: A survey of current UK practice

Aktive Filter

Suchergebnisse filtern