UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 527

Sortiert nach

Human genetic variation database, a reference database of genetic variations in the Japanese population

Journal of human genetics, 2016-06, Vol.61 (6), p.547-553

2016

Volltextzugriff (PDF)

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Nature genetics, 2018-04, Vol.50 (4), p.581-590

2018

Volltextzugriff (PDF)

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis

Annals of neurology, 2022-03, Vol.91 (3), p.317-328

2022

Volltextzugriff (PDF)

Genomic aspects of sporadic neurodegenerative diseases

Biochemical and biophysical research communications, 2014-09, Vol.452 (2), p.221-225

2014

Volltextzugriff (PDF)

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia

Internal Medicine, 2020/03/15, Vol.59(6), pp.839-842

2020

Volltextzugriff (PDF)

Copper Deficiency in Wilson's Disease with a Normal Zinc Value

Internal medicine (Tokyo, 1992), 2023-04, Vol.62 (7), p.1073-1076, Article 9366-22

2023

Volltextzugriff (PDF)

COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population

Journal of the neurological sciences, 2021-10, Vol.429, p.117623-117623, Article 117623

2021

Volltextzugriff (PDF)

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

Journal of neurology, neurosurgery and psychiatry, 2019-05, Vol.90 (5), p.537

2019

Volltextzugriff (PDF)

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Nature communications, 2016-04, Vol.7 (1), p.11253-11253, Article 11253

2016

Volltextzugriff (PDF)

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

Journal of medical genetics, 2021-10, Vol.58 (10), p.701

2021

Volltextzugriff (PDF)

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

Neurobiology of aging, 2018-01, Vol.61, p.255.e9-255.e16

2018

Volltextzugriff (PDF)

Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges

Scientific reports, 2021-03, Vol.11 (1), p.6987-6987, Article 6987

2021

Volltextzugriff (PDF)

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

Journal of human genetics, 2019-01, Vol.64 (1), p.55-59

2019

Volltextzugriff (PDF)

Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism

Bone (New York, N.Y.), 2019-05, Vol.122, p.193-198

2019

Volltextzugriff (PDF)

Blind-Test Numerical Simulation of Tsunami Wave Pressure Acting on a Land Structure

Journal of disaster research, 2021-10, Vol.16 (7), p.1005-1014

2021

Volltextzugriff (PDF)

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing

Scientific reports, 2022-06, Vol.12 (1), p.9543-9543, Article 9543

2022

Volltextzugriff (PDF)

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients

PloS one, 2013-02, Vol.8 (2), p.e56120-e56120

2013

Volltextzugriff (PDF)

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

Bioinformatics, 2014-03, Vol.30 (6), p.815-822

2014

Volltextzugriff (PDF)

Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease

Internal Medicine, 2024/03/15, Vol.63(6), pp.861-865

2024

Volltextzugriff (PDF)

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

Internal Medicine, 2019/10/01, Vol.58(19), pp.2865-2869

2019

Volltextzugriff (PDF)

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population

Journal of human genetics, 2021-03, Vol.66 (3), p.237-241

2021

Volltextzugriff (PDF)

A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2

Journal of bone and mineral research, 2014-04, Vol.29 (4), p.992-998

2014

Volltextzugriff (PDF)

Simultaneous detection of reduced and oxidized forms of coenzyme Q10 in human cerebral spinal fluid as a potential marker of oxidative stress

Journal of Clinical Biochemistry and Nutrition, 2018, Vol.63(3), pp.205-210

2018

Volltextzugriff (PDF)

The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation

Internal Medicine, 2023/10/01, Vol.62(19), pp.2883-2887

2023

Volltextzugriff (PDF)

1 – 25 von 527

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(411)
Mit Volltextzugriff
(487)

Publikationsform

Sprache

Englisch
(470)
Japanisch
(213)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

Human genetic variation database, a reference database of genetic variations in the Japanese population

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis

Genomic aspects of sporadic neurodegenerative diseases

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia

Copper Deficiency in Wilson's Disease with a Normal Zinc Value

COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism

Blind-Test Numerical Simulation of Tsunami Wave Pressure Acting on a Land Structure

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population

A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2

Simultaneous detection of reduced and oxidized forms of coenzyme Q10 in human cerebral spinal fluid as a potential marker of oxidative stress

The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation

Suchergebnisse filtern