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...

Validation of Gene Therapy for Mutant Mitochondria by Delivering Mitochondrial RNA Using a MITO-Porter

Molecular therapy. Nucleic acids, 2020-06, Vol.20, p.687-698

2020

Volltextzugriff (PDF)

Upon Assuming the Presidency of the Illuminating Engineering Institute of Japan

Journal of Light & Visual Environment, 2013/12/01, Vol.37(2_3), pp.39-40

Sudo, Akira

2013

Volltextzugriff (PDF)

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1511-1516

2011

Volltextzugriff (PDF)

Successful recovery from severe hypertension in a patient with Leigh syndrome

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100684, Article 100684

2020

Volltextzugriff (PDF)

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

Journal of human genetics, 2004-02, Vol.49 (2), p.92-96

2004

Volltextzugriff (PDF)

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium

European journal of pediatrics, 2011-11, Vol.170 (11), p.1481-1484

2011

Volltextzugriff (PDF)

Possible involvement of the tip of temporal lobe in Landau–Kleffner syndrome

Brain & development (Tokyo. 1979), 2007-09, Vol.29 (8), p.529-533

2007

Volltextzugriff (PDF)

A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)

Clinical Pediatric Endocrinology, 2012, Vol.21(3), pp.53-55

2012

Volltextzugriff (PDF)

Media exposure, interactive health literacy, and adolescents' susceptibility to future smoking

International journal of adolescent medicine and health, 2017-04, Vol.29 (2)

2017

Volltextzugriff (PDF)

Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation

No to hattatsu, 2013-11, Vol.45 (6), p.452

2013

Volltextzugriff (PDF)

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

Brain & development (Tokyo. 1979), 2005-08, Vol.27 (5), p.389-391

2005

Volltextzugriff (PDF)

A Japanese Patient of Congenital Hypothyroidism with Cerebellar Atrophy

Endocrine Journal, 2007, Vol.54(6), pp.941-944

2007

Volltextzugriff (PDF)

MELAS: A nationwide prospective cohort study of 96 patients in Japan

Biochimica et biophysica acta, 2012-05, Vol.1820 (5), p.619-624

2012

Volltextzugriff (PDF)

STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

Epilepsia (Copenhagen), 2010-12, Vol.51 (12), p.2397-2405

2010

Volltextzugriff (PDF)

An infantile–juvenile form of Alexander disease caused by a R79H mutation in GFAP

Brain & development (Tokyo. 1979), 2006-03, Vol.28 (2), p.131-133

2006

Volltextzugriff (PDF)

Phlogopite and K-amphibole in the upper mantle: Implication for magma genesis in subduction zones

Geophysical research letters, 1990-01, Vol.17 (1), p.29-32

1990

Volltextzugriff (PDF)

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)

Annals of neurology, 2002-07, Vol.52 (1), p.122-125

2002

Volltextzugriff (PDF)

A Japanese Patient of Congenital Hypothyroidism with Cerebellar Atrophy

ENDOCRINE JOURNAL, 2007, Vol.54 (6), p.941-944

2007

Volltextzugriff (PDF)

Proposals for Japan’s Science and Technology Policy as an Industry

TRENDS IN THE SCIENCES, 2022/02/01, Vol.27(2), pp.2_108-2_111

SUDO, Akira

2022

Volltextzugriff (PDF)

Avoidance of Tracheostomy in a Newborn of Congenital Central Hypoventilation Syndrome

Journal of Neonatal Biology, 2015, Vol.4 (2)

Akira Sudo, Yosuke Kaneshi

2015

Volltextzugriff (PDF)

Acute encephalopathy in children with Dravet syndrome

Epilepsia (Copenhagen), 2012-01, Vol.53 (1), p.79-86

2012

Volltextzugriff (PDF)

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

Neurogenetics, 2012-11, Vol.13 (4), p.327-332

2012

Volltextzugriff (PDF)

Congenital monomelic neurogenic disorder with calf muscle hypertrophy

Brain & development (Tokyo. 1979), 2003-12, Vol.25 (8), p.571-573

2003

Volltextzugriff (PDF)

The Impact of Centralization of Obstetric Care Resources in Japan on the Perinatal Mortality Rate

ISRN obstetrics and gynecology, 2013-09, Vol.2013, p.709616-5

2013

Volltextzugriff (PDF)

1 – 25 von 599

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(430)
Mit Volltextzugriff
(517)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Validation of Gene Therapy for Mutant Mitochondria by Delivering Mitochondrial RNA Using a MITO-Porter

Upon Assuming the Presidency of the Illuminating Engineering Institute of Japan

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Successful recovery from severe hypertension in a patient with Leigh syndrome

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium

Possible involvement of the tip of temporal lobe in Landau–Kleffner syndrome

A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)

Media exposure, interactive health literacy, and adolescents' susceptibility to future smoking

Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

A Japanese Patient of Congenital Hypothyroidism with Cerebellar Atrophy

MELAS: A nationwide prospective cohort study of 96 patients in Japan

STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

An infantile–juvenile form of Alexander disease caused by a R79H mutation in GFAP

Phlogopite and K-amphibole in the upper mantle: Implication for magma genesis in subduction zones

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)

A Japanese Patient of Congenital Hypothyroidism with Cerebellar Atrophy

Proposals for Japan’s Science and Technology Policy as an Industry

Avoidance of Tracheostomy in a Newborn of Congenital Central Hypoventilation Syndrome

Acute encephalopathy in children with Dravet syndrome

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

Congenital monomelic neurogenic disorder with calf muscle hypertrophy

The Impact of Centralization of Obstetric Care Resources in Japan on the Perinatal Mortality Rate

Suchergebnisse filtern