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...

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

American journal of human genetics, 2015-12, Vol.97 (6), p.894-903

2015

Volltextzugriff (PDF)

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

American journal of human genetics, 2015-12, Vol.97 (6), p.886-893

2015

Volltextzugriff (PDF)

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

American journal of human genetics, 2014-06, Vol.94 (6), p.809-817

2014

Volltextzugriff (PDF)

Mutations in PIK3R1 Cause SHORT Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.158-166

2013

Volltextzugriff (PDF)

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

American journal of human genetics, 2011-12, Vol.89 (6), p.713-730

2011

Volltextzugriff (PDF)

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Human mutation, 2014-01, Vol.35 (1), p.45-49

2014

Volltextzugriff (PDF)

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Journal of medical genetics, 2014-07, Vol.51 (7), p.470-474

2014

Volltextzugriff (PDF)

Identification of Genes for Childhood Heritable Diseases

Annual review of medicine, 2014-01, Vol.65 (1), p.19-31

2014

Volltextzugriff (PDF)

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.596-600

2017

Volltextzugriff (PDF)

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

American journal of human genetics, 2013-02, Vol.92 (2), p.252-258

2013

Volltextzugriff (PDF)

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

BMC medical genetics, 2014-03, Vol.15 (1), p.36-36, Article 36

2014

Volltextzugriff (PDF)

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Orphanet journal of rare diseases, 2012-11, Vol.7 (1), p.90-90, Article 90

2012

Volltextzugriff (PDF)

A generalizable pre-clinical research approach for orphan disease therapy

Orphanet journal of rare diseases, 2012-06, Vol.7 (1), p.39-39, Article 39

2012

Volltextzugriff (PDF)

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Nature cell biology, 2015-08, Vol.17 (8), p.1074-1087

2015

Volltextzugriff (PDF)

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

Neurobiology of aging, 2015-02, Vol.36 (2), p.1222.e1-1222.e5

2015

Volltextzugriff (PDF)

Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia

Human mutation, 2014-01, Vol.35 (1), p.45-49

2014

Volltextzugriff (PDF)

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease

Journal of child neurology, 2015-07, Vol.30 (8), p.1037-1043

2015

Volltextzugriff (PDF)

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

JIMD Reports, Volume 30, 2016-01, Vol.30, p.73-79

2016

Volltextzugriff (PDF)

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.719-729

2018

Volltextzugriff (PDF)

Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

Epilepsia (Copenhagen), 2014-07, Vol.55 (7), p.e75-e79

2014

Volltextzugriff (PDF)

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

Investigative ophthalmology & visual science, 2017-03, Vol.58 (3), p.1736-1742

2017

Volltextzugriff (PDF)

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia

International journal of cardiology, 2015-04, Vol.185, p.114-116

2015

Volltextzugriff (PDF)

Intellectual disability associated with a homozygous missense mutation in THOC6

Orphanet journal of rare diseases, 2013-04, Vol.8 (1), p.62-62, Article 62

2013

Volltextzugriff (PDF)

A family segregating lethal neonatal coenzyme Q 10 deficiency caused by mutations in COQ9

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.719-729

2018

Volltextzugriff (PDF)

1 – 25 von 34

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(33)
Mit Volltextzugriff
(31)

Publikationsform

Artikel
(33)
Berichte
(1)

Sprache

Englisch
(34)
Japanisch
(9)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

Mutations in PIK3R1 Cause SHORT Syndrome

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Identification of Genes for Childhood Heritable Diseases

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

A generalizable pre-clinical research approach for orphan disease therapy

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia

Intellectual disability associated with a homozygous missense mutation in THOC6

A family segregating lethal neonatal coenzyme Q 10 deficiency caused by mutations in COQ9

Suchergebnisse filtern