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...

Role of carnitine and its derivatives in the development and management of type 2 diabetes

Nutrition & diabetes, 2018-03, Vol.8 (1), p.8-10, Article 8

2018

Volltextzugriff (PDF)

New Clinical Genetics - 3rd edition

European Journal of Human Genetics, 2016-12, Vol.24 (12), p.1832-1837

Melegh, Béla

2016

Volltextzugriff (PDF)

Reconstructing Roma history from genome-wide data

PloS one, 2013-03, Vol.8 (3), p.e58633-e58633

2013

Volltextzugriff (PDF)

Revealing the Genetic Impact of the Ottoman Occupation on Ethnic Groups of East-Central Europe and on the Roma Population of the Area

Frontiers in genetics, 2019-06, Vol.10, p.558-558

2019

Volltextzugriff (PDF)

Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis

Current molecular medicine, 2020-01, Vol.20 (5), p.336-354

2020

Volltextzugriff (PDF)

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.223-225

2015

Volltextzugriff (PDF)

Investigating the genetic characteristics of the Csangos, a traditionally Hungarian speaking ethnic group residing in Romania

Journal of human genetics, 2020-12, Vol.65 (12), p.1093-1103

2020

Volltextzugriff (PDF)

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

European journal of medical genetics, 2020-02, Vol.63 (2), p.103655-103655, Article 103655

2020

Volltextzugriff (PDF)

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings

Experimental and molecular pathology, 2020-08, Vol.115, p.104471-104471, Article 104471

2020

Volltextzugriff (PDF)

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Brain (London, England : 1878), 2014-09, Vol.137 (Pt 9), p.2444-2455

2014

Volltextzugriff (PDF)

Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data

PloS one, 2018-09, Vol.13 (9), p.e0202890-e0202890

2018

Volltextzugriff (PDF)

Rare disease education in Europe and beyond: time to act

Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.441-441, Article 441

2022

Volltextzugriff (PDF)

Cytochrome P450 Drug Metabolizing Enzymes in Roma Population Samples: Systematic Review of the Literature

Current medicinal chemistry, 2016-09, Vol.23 (31), p.3632-3652

2016

Volltextzugriff (PDF)

Towards a European consensus for reporting incidental findings during clinical NGS testing

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1601-1606

2015

Volltextzugriff (PDF)

Marked Differences of Haplotype Tagging SNP Distribution, Linkage, and Haplotype Profile of APOA5 Gene in Roma Population Samples

Pathology oncology research, 2017-10, Vol.23 (4), p.853-861

2017

Volltextzugriff (PDF)

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients

International journal of molecular sciences, 2019-10, Vol.20 (19), p.4935

2019

Volltextzugriff (PDF)

Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy

Seizure (London, England), 2020-01, Vol.74, p.8-13

2020

Volltextzugriff (PDF)

Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation

Frontiers in genetics, 2021-04, Vol.12, p.635458-635458

2021

Volltextzugriff (PDF)

Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn’s disease and psoriasis

Inflammation research, 2013-02, Vol.62 (2), p.195-200

2013

Volltextzugriff (PDF)

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature

Molecular genetics & genomic medicine, 2023-07, Vol.11 (7), p.e2166-n/a

2023

Volltextzugriff (PDF)

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F

European journal of medical genetics, 2019-07, Vol.62 (7), p.103662-103662, Article 103662

2019

Volltextzugriff (PDF)

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

European journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.869-878

2019

Volltextzugriff (PDF)

Down-Syndrome-Related Maternal Dysbiosis Might Be Triggered by Certain Classes of Antibiotics: A New Insight into the Possible Pathomechanisms

Antibiotics (Basel), 2023-06, Vol.12 (6), p.1029

2023

Volltextzugriff (PDF)

DNA profiling of Hungarian King Béla III and other skeletal remains originating from the Royal Basilica of Székesfehérvár

Archaeological and anthropological sciences, 2019-04, Vol.11 (4), p.1345-1357

2019

Volltextzugriff (PDF)

1 – 25 von 362

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(336)
Mit Volltextzugriff
(260)

Publikationsform

Sprache

Englisch
(310)
Ungarisch
(52)
Deutsch
(2)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Role of carnitine and its derivatives in the development and management of type 2 diabetes

New Clinical Genetics - 3rd edition

Reconstructing Roma history from genome-wide data

Revealing the Genetic Impact of the Ottoman Occupation on Ethnic Groups of East-Central Europe and on the Roma Population of the Area

Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Investigating the genetic characteristics of the Csangos, a traditionally Hungarian speaking ethnic group residing in Romania

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data

Rare disease education in Europe and beyond: time to act

Cytochrome P450 Drug Metabolizing Enzymes in Roma Population Samples: Systematic Review of the Literature

Towards a European consensus for reporting incidental findings during clinical NGS testing

Marked Differences of Haplotype Tagging SNP Distribution, Linkage, and Haplotype Profile of APOA5 Gene in Roma Population Samples

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients

Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation

Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn’s disease and psoriasis

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

Down-Syndrome-Related Maternal Dysbiosis Might Be Triggered by Certain Classes of Antibiotics: A New Insight into the Possible Pathomechanisms

DNA profiling of Hungarian King Béla III and other skeletal remains originating from the Royal Basilica of Székesfehérvár

Suchergebnisse filtern