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...

Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2020-01, Vol.183 (1), p.3-4

2020

Volltextzugriff (PDF)

Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.2954-2967

2017

Volltextzugriff (PDF)

Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome

Clinical genetics, 2007-10, Vol.72 (4), p.351-356

2007

Volltextzugriff (PDF)

Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy

Neurotherapeutics, 2023-01, Vol.20 (1), p.272-283

2023

Volltextzugriff (PDF)

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features

Acta ophthalmologica (Oxford, England), 2015-02, Vol.93 (1), p.83-94

2015

Volltextzugriff (PDF)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families

Neuropediatrics, 2001-06, Vol.32 (3), p.142-146

2001

Volltextzugriff (PDF)

Maple syrup urine disease: Mutation analysis in Turkish patients

Journal of inherited metabolic disease, 2002-05, Vol.25 (2), p.89-97

2002

Volltextzugriff (PDF)

Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

JIMD Reports - Case and Research Reports, 2011/1, 2011-01, Vol.1, p.17-21

2011

Volltextzugriff (PDF)

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome

Clinical genetics, 2013-01, Vol.83 (1), p.96-98

2013

Volltextzugriff (PDF)

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum

Neuropediatrics, 2006-04, Vol.37 (2), p.59-66

2006

Volltextzugriff (PDF)

Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations

Gene, 2016-08, Vol.587 (2), p.132-136

2016

Volltextzugriff (PDF)

Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA

Eye (London), 2006-07, Vol.20 (7), p.817-819

2006

Volltextzugriff (PDF)

Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children

Scientific reports, 2016-09, Vol.6 (1), p.33152-33152, Article 33152

2016

Volltextzugriff (PDF)

Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

JIMD Reports - Case and Research Reports, 2011/3, 2012-01, Vol.3, p.17-23

2012

Volltextzugriff (PDF)

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation

Clinical dysmorphology, 2017-01, Vol.26 (1), p.1-12

2017

Volltextzugriff (PDF)

Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients

Molecular vision, 2009-06, Vol.15, p.1270-1276

2009

Volltextzugriff (PDF)

The phenotype of Arg555Trp mutation in a large Turkish family with corneal granular dystrophy

European journal of ophthalmology, 2001-10, Vol.11 (4), p.333-337

2001

Volltextzugriff (PDF)

Atypical presentation and a novel mutation in ALMS 1: implications for clinical and molecular diagnostic strategies for Alström syndrome

Clinical genetics, 2013, Vol.83 (1), p.96-98

2013

Volltextzugriff (PDF)

The Phenotype of Arg555 Trp Mutation in a Large Turkish Family with Corneal Granular Dystrophy

European journal of ophthalmology, 2001-10, Vol.11 (4), p.333-337

2001

Volltextzugriff (PDF)

Short Report: Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome

Clinical genetics, 2007-10, Vol.72 (4), p.351

2007

Volltextzugriff (PDF)

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

International journal of human genetics, 2015-01, Vol.60 (1), p.1-9

2015

Volltextzugriff (PDF)

The genotypic and phenotypic spectrum of MTO1 deficiency

Molecular genetics and metabolism, 2018-01, Vol.123 (1), p.28-42

2018

Volltextzugriff (PDF)

Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma

Molecular vision, 2005-11, Vol.11, p.916-921

2005

Volltextzugriff (PDF)

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

Neurogenetics, 2004-09, Vol.5 (3), p.165-170

2004

Volltextzugriff (PDF)

Distraction by a cognitive task has a higher impact on electrophysiological measures compared with conditioned pain modulation

BMC neuroscience, 2020-12, Vol.21 (1), p.53-53, Article 53

2020

Volltextzugriff (PDF)

1 – 25 von 187

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(162)
Mit Volltextzugriff
(151)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(143)
Life Sciences & Biomedicine
(126)
Humans
(75)
Male
(61)
Female
(59)
Adult
(38)
Biological And Medical Sciences
(37)
Middle Aged
(29)
Animals
(28)
Medical Sciences
(25)
Aged
(20)
Genetics & Heredity
(19)
Population Dynamics
(18)
Ecology
(17)
Environmental Sciences & Ecology
(17)
Fundamental And Applied Biological Sciences. Psychology
(15)
Adolescent
(14)
Mutation
(14)
Neurosciences & Neurology
(14)
Technology
(13)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect

Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome

Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families

Maple syrup urine disease: Mutation analysis in Turkish patients

Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum

Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations

Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA

Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children

Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation

Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients

The phenotype of Arg555Trp mutation in a large Turkish family with corneal granular dystrophy

Atypical presentation and a novel mutation in ALMS 1: implications for clinical and molecular diagnostic strategies for Alström syndrome

The Phenotype of Arg555 Trp Mutation in a Large Turkish Family with Corneal Granular Dystrophy

Short Report: Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

The genotypic and phenotypic spectrum of MTO1 deficiency

Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

Distraction by a cognitive task has a higher impact on electrophysiological measures compared with conditioned pain modulation

Suchergebnisse filtern