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...

G.P.16.10. Danon disease: A novel donor site LAMP2 mutation causing alternative transcripts

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.829-830

2008

Volltextzugriff (PDF)

A Founder Mutation in the γ-Sarcoglycan Gene of Gypsies Possibly Predating Their Migration Out of India

Human molecular genetics, 1996-12, Vol.5 (12), p.2019-2022

1996

Volltextzugriff (PDF)

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

Neurology, 2000-03, Vol.54 (5), p.1075-1079

2000

Volltextzugriff (PDF)

A somatic and germline mosaic mutation in MPZ/P 0 mimics recessive inheritance of CMT1B

Neurology, 2001-07, Vol.57 (1), p.101-105

2001

Volltextzugriff (PDF)

Le temps en éducation: Regards multiples

2001

Volltextzugriff (PDF)

Manganese Intoxication: The Cause of an Inexplicable Epileptic Syndrome in a 3 Year Old Child

Neurotoxicology (Park Forest South), 2003-08, Vol.24 (4), p.633-639

2003

Volltextzugriff (PDF)

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

Journal of neurology, 1995-05, Vol.242 (5), p.304-312

1995

Volltextzugriff (PDF)

Hair anomalies as a sign of mitochondrial disease

European journal of pediatrics, 2003-07, Vol.162 (7-8), p.459-461

2003

Volltextzugriff (PDF)

A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B

Neurology, 2001-07, Vol.57 (1), p.101

2001

Volltextzugriff (PDF)

Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients : immunohistochemical analysis and clinical aspects

Acta neuropathologica, 1997-07, Vol.94 (1), p.28-35

1997

Volltextzugriff (PDF)

Gonosomal Mosaicism Of A Novel Heterozygous Mutation Of P Causes Charcot-Marie-Tooth Neuropathy Type 1b With Apparent Autosomal Recessive Inheritance

Journal of the peripheral nervous system, 2001-03, Vol.6 (1), p.47-48

2001

Volltextzugriff (PDF)

New clinical findings in oculo-ectodermal syndrome

Clinical dysmorphology, 2000-01, Vol.9 (1), p.39-41

2000

Volltextzugriff (PDF)

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect

Archives of neurology (Chicago), 2005-10, Vol.62 (10), p.1582

2005

Volltextzugriff (PDF)

Clinical heterogeneity of adhalin deficiency

Annals of neurology, 1996-02, Vol.39 (2), p.196-202

1996

Volltextzugriff (PDF)

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

Journal of the neurological sciences, 1995-10, Vol.132 (2), p.146-155

1995

Volltextzugriff (PDF)

Developmental expression of dystrophin, dystrophin-associated glycoproteins and other membrane cytoskeletal proteins in human skeletal and heart muscle

Brain research. Developmental brain research, 1996-01, Vol.91 (1), p.70-82

1996

Volltextzugriff (PDF)

Trichorrhexis Nodosa and lip pits in autosomal dominant ectodermal dysplasia-central nervous system malformation syndrome

American journal of medical genetics, 1997-08, Vol.71 (2), p.226-228

1997

Volltextzugriff (PDF)

Schönlein-Henoch syndrome. Clinical and pathogenetic note. Case contribution

Minerva pediatrica, 1978-06, Vol.30 (11), p.927

1978

Volltextzugriff (PDF)

Cerebral and renal morphological malformations in a subject with suspected fetal alcoholic syndrome. Case report

Minerva pediatrica, 1979-08, Vol.31 (15), p.1185

1979

Volltextzugriff (PDF)

The use of ecological, fishing and environmental indicators in support of decision making in southern Benguela fisheries

Ecological indicators, 2016-10, Vol.69, p.473-487

2016

Volltextzugriff (PDF)

Biotinylated Nanodiamond: Simple and Efficient Functionalization of Detonation Diamond

Langmuir, 2008-04, Vol.24 (8), p.4200-4204

2008

Volltextzugriff (PDF)

A Phase 3 Trial of l-Glutamine in Sickle Cell Disease

The New England journal of medicine, 2018-07, Vol.379 (3), p.226-235

2018

Volltextzugriff (PDF)

Ecosystem change in the southern Benguela and the underlying processes

Journal of marine systems, 2015-04, Vol.144, p.9-29

2015

Volltextzugriff (PDF)

Communicating changes in state of the southern Benguela ecosystem using trophic, model-derived indicators

Marine ecology. Progress series (Halstenbek), 2014-10, Vol.512, p.217-237

2014

Volltextzugriff (PDF)

The Quilt of Sustainable Ocean Governance: Patterns for Practitioners

Frontiers in Marine Science, 2021-03, Vol.8

2021

Volltextzugriff (PDF)

1 – 25 von 108

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(85)
Mit Volltextzugriff
(83)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

G.P.16.10. Danon disease: A novel donor site LAMP2 mutation causing alternative transcripts

A Founder Mutation in the γ-Sarcoglycan Gene of Gypsies Possibly Predating Their Migration Out of India

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

A somatic and germline mosaic mutation in MPZ/P 0 mimics recessive inheritance of CMT1B

Le temps en éducation: Regards multiples

Manganese Intoxication: The Cause of an Inexplicable Epileptic Syndrome in a 3 Year Old Child

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

Hair anomalies as a sign of mitochondrial disease

A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B

Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients : immunohistochemical analysis and clinical aspects

Gonosomal Mosaicism Of A Novel Heterozygous Mutation Of P Causes Charcot-Marie-Tooth Neuropathy Type 1b With Apparent Autosomal Recessive Inheritance

New clinical findings in oculo-ectodermal syndrome

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect

Clinical heterogeneity of adhalin deficiency

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

Developmental expression of dystrophin, dystrophin-associated glycoproteins and other membrane cytoskeletal proteins in human skeletal and heart muscle

Trichorrhexis Nodosa and lip pits in autosomal dominant ectodermal dysplasia-central nervous system malformation syndrome

Schönlein-Henoch syndrome. Clinical and pathogenetic note. Case contribution

Cerebral and renal morphological malformations in a subject with suspected fetal alcoholic syndrome. Case report

The use of ecological, fishing and environmental indicators in support of decision making in southern Benguela fisheries

Biotinylated Nanodiamond: Simple and Efficient Functionalization of Detonation Diamond

A Phase 3 Trial of l-Glutamine in Sickle Cell Disease

Ecosystem change in the southern Benguela and the underlying processes

Communicating changes in state of the southern Benguela ecosystem using trophic, model-derived indicators

The Quilt of Sustainable Ocean Governance: Patterns for Practitioners

Suchergebnisse filtern