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...

Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment

Clinical genetics, 2024-08, Vol.106 (2), p.119-126

2024

Volltextzugriff (PDF)

Wychowanie religijne w purytańskich rodzinach Nowej Anglii

Forum pedagogiczne, 2016-11, Vol.6 (2/2), p.177-186

Stawiński, Piotr

2016

Volltextzugriff (PDF)

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

Scientific reports, 2017-06, Vol.7 (1), p.3362-5, Article 3362

2017

Volltextzugriff (PDF)

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

PloS one, 2016-12, Vol.11 (12), p.e0166618-e0166618

2016

Volltextzugriff (PDF)

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

Journal of applied genetics, 2020-02, Vol.61 (1), p.87-91

2020

Volltextzugriff (PDF)

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

Clinical genetics, 2018-12, Vol.94 (6), p.581-585

2018

Volltextzugriff (PDF)

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

BMC medical genetics, 2017-12, Vol.18 (1), p.142-142, Article 142

2017

Volltextzugriff (PDF)

Inverse association between obesity predisposing FTO genotype and completed suicide

PloS one, 2014-09, Vol.9 (9), p.e108900

2014

Volltextzugriff (PDF)

WDR13 : A Novel Gene Implicated in Non-Syndromic Intellectual Disability

Genes, 2021-11, Vol.12 (12), p.1911

2021

Volltextzugriff (PDF)

Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene

PloS one, 2013-02, Vol.8 (2), p.e57199-e57199

2013

Volltextzugriff (PDF)

Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment

Diagnostics (Basel), 2021-12, Vol.12 (1), p.13

2021

Volltextzugriff (PDF)

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications

Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1526-n/a

2021

Volltextzugriff (PDF)

Massively parallel targeted resequencing reveals novel genetic variants associated with aspergillosis in paediatric patients with haematological malignancies

Polish journal of pathology, 2017-01, Vol.68 (3), p.210-217

2017

Volltextzugriff (PDF)

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy

Clinical genetics, 2019-09, Vol.96 (3), p.274-275

2019

Volltextzugriff (PDF)

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1482-1487

2022

Volltextzugriff (PDF)

Migration and religion. Selected aspects

Scientific Papers of Silesian University of Technology. Organization and Management Series, 2018, Vol.2018 (126), p.175-186

STAWIŃSKI, Piotr

2018

Volltextzugriff (PDF)

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

American journal of human genetics, 2018-03, Vol.102 (3), p.460-467

2018

Volltextzugriff (PDF)

Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy

Human molecular genetics, 2021-04, Vol.30 (3-4), p.226-233

2021

Volltextzugriff (PDF)

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

Journal of human genetics, 2018-04, Vol.63 (4), p.473-485

2018

Volltextzugriff (PDF)

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Journal of applied genetics, 2020-05, Vol.61 (2), p.213-218

2020

Volltextzugriff (PDF)

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2322-2327

2016

Volltextzugriff (PDF)

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

PloS one, 2017-01, Vol.12 (1), p.e0169007-e0169007

2017

Volltextzugriff (PDF)

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Journal of clinical medicine, 2020-07, Vol.9 (7), p.2220

2020

Volltextzugriff (PDF)

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction

Clinical genetics, 2019-10, Vol.96 (4), p.371-375

2019

Volltextzugriff (PDF)

1 – 25 von 105

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(81)
Mit Volltextzugriff
(98)

Publikationsform

Sprache

Englisch
(98)
Polnisch
(7)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment

Wychowanie religijne w purytańskich rodzinach Nowej Anglii

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

Inverse association between obesity predisposing FTO genotype and completed suicide

WDR13 : A Novel Gene Implicated in Non-Syndromic Intellectual Disability

Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene

Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications

Massively parallel targeted resequencing reveals novel genetic variants associated with aspergillosis in paediatric patients with haematological malignancies

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis

Migration and religion. Selected aspects

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction

Suchergebnisse filtern