UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

Journal of neurology, neurosurgery and psychiatry, 2019-02, Vol.90 (2), p.195-202

2019

Volltextzugriff (PDF)

A TRPM7 mutation linked to familial trigeminal neuralgia: Omega current and hyperexcitability of trigeminal ganglion neurons

Proceedings of the National Academy of Sciences - PNAS, 2022-09, Vol.119 (38), p.e2119630119-e2119630119

2022

Volltextzugriff (PDF)

Clinical diversity caused by novel IGHMBP2 variants

Journal of human genetics, 2017-06, Vol.62 (6), p.599-604

2017

Volltextzugriff (PDF)

Nav1.7 P610T mutation in two siblings with persistent ocular pain after corneal axon transection: impaired slow inactivation and hyperexcitable trigeminal neurons

Journal of neurophysiology, 2023-03, Vol.129 (3), p.609-618

2023

Volltextzugriff (PDF)

Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan

Journal of the peripheral nervous system, 2018-03, Vol.23 (1), p.40-48

2018

Volltextzugriff (PDF)

Phenotypic Variability in Childhood of Skeletal Muscle Sodium Channelopathies

Pediatric neurology, 2015-05, Vol.52 (5), p.504-508

2015

Volltextzugriff (PDF)

Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)

Journal of the neurological sciences, 2018-08, Vol.391, p.15-21

2018

Volltextzugriff (PDF)

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications

Acta neuropathologica communications, 2024-08, Vol.12 (1), p.136-14

2024

Volltextzugriff (PDF)

Long non-coding RNA HNF1A-AS is upregulated and promotes cell proliferation and metastasis in nasopharyngeal carcinoma

Cancer biomarkers : section A of Disease markers, 2016-01, Vol.16 (2), p.291-300

2016

Volltextzugriff (PDF)

An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease

Rinsho shinkeigaku = Clinical neurology, 2017-06, Vol.57 (6), p.287

2017

Volltextzugriff (PDF)

Mitochondrial myopathy with autophagic vacuoles in patients with the m.8344A>G mutation

Journal of clinical pathology, 2013-08, Vol.66 (8), p.659-664

2013

Volltextzugriff (PDF)

Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment

Chinese medical journal, 2009-04, Vol.122 (7), p.830-833

2009

Volltextzugriff (PDF)

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy

International journal of audiology, 2013-01, Vol.52 (1), p.23-28

2013

Volltextzugriff (PDF)

Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients

Chinese medical journal, 2007-01, Vol.120 (1), p.46-49

2007

Volltextzugriff (PDF)

Clinical observation on hearing conditions of centenarians in northern district of China

Acta oto-laryngologica, 2015-05, Vol.135 (5), p.451-458

2015

Volltextzugriff (PDF)

Observation of the effect of targeted therapy of 64-slice spiral CT combined with cryoablation for liver cancer

World journal of gastroenterology : WJG, 2017-06, Vol.23 (22), p.4080-4089

2017

Volltextzugriff (PDF)

Clinical features and screening of ACVRL1 gene in II hereditary hemorrhagic telangiectasia

Zhong hua yi xue za zhi, 2012-04, Vol.92 (16), p.1107-1111

2012

Volltextzugriff (PDF)

Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy

Zhonghua yi xue yi chuan xue za zhi, 2010-04, Vol.27 (2), p.136

2010

Volltextzugriff (PDF)

A case of hyperkalemic periodic paralysis presenting progressive myopathy with tubular aggregates

Rinsho shinkeigaku = Clinical neurology, 2018-11, Vol.58 (11), p.663

2018

Volltextzugriff (PDF)

Three-dimensional CT imaging in the treatment of children's developmental dislocation of hip

Zhongguo gu shang, 2009-06, Vol.22 (6), p.460

2009

Volltextzugriff (PDF)

Alisol B 23-acetate protects against non-alcoholic steatohepatitis in mice via farnesoid X receptor activation

Acta pharmacologica Sinica, 2017-01, Vol.38 (1), p.69-79

2017

Volltextzugriff (PDF)

Rescaled range analysis applied to the study delayed rectifier potassium channel kinetics

Biophysical chemistry, 2003-10, Vol.106 (1), p.67-74

2003

Volltextzugriff (PDF)

Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery, 2007-11, Vol.42 (11), p.804

2007

Volltextzugriff (PDF)

Large-scale screening of mtDNA A1555G mutation in China and its significance in prevention of aminoglycoside antibiotic induced deafness

Zhong hua yi xue za zhi, 2006-05, Vol.86 (19), p.1318

2006

Volltextzugriff (PDF)

A clinical and pathological analysis of inclusion body myositis

Chung-hua nei kʿo tsa chih, 2007-08, Vol.46 (8), p.658

2007

Volltextzugriff (PDF)

1 – 25 von 142

Suche als RSS-Feed

Aktive Filter

ThemaMale

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(98)
Mit Volltextzugriff
(113)

Publikationsform

Artikel
(142)

Sprache

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

A TRPM7 mutation linked to familial trigeminal neuralgia: Omega current and hyperexcitability of trigeminal ganglion neurons

Clinical diversity caused by novel IGHMBP2 variants

Nav1.7 P610T mutation in two siblings with persistent ocular pain after corneal axon transection: impaired slow inactivation and hyperexcitable trigeminal neurons

Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan

Phenotypic Variability in Childhood of Skeletal Muscle Sodium Channelopathies

Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications

Long non-coding RNA HNF1A-AS is upregulated and promotes cell proliferation and metastasis in nasopharyngeal carcinoma

An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease

Mitochondrial myopathy with autophagic vacuoles in patients with the m.8344A>G mutation

Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy

Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients

Clinical observation on hearing conditions of centenarians in northern district of China

Observation of the effect of targeted therapy of 64-slice spiral CT combined with cryoablation for liver cancer

Clinical features and screening of ACVRL1 gene in II hereditary hemorrhagic telangiectasia

Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy

A case of hyperkalemic periodic paralysis presenting progressive myopathy with tubular aggregates

Three-dimensional CT imaging in the treatment of children's developmental dislocation of hip

Alisol B 23-acetate protects against non-alcoholic steatohepatitis in mice via farnesoid X receptor activation

Rescaled range analysis applied to the study delayed rectifier potassium channel kinetics

Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China

Large-scale screening of mtDNA A1555G mutation in China and its significance in prevention of aminoglycoside antibiotic induced deafness

A clinical and pathological analysis of inclusion body myositis

Aktive Filter

Suchergebnisse filtern