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...

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Clinical genetics, 2007-06, Vol.71 (6), p.540-550

2007

Volltextzugriff (PDF)

Mutation of PAX9 is associated with oligodontia

Nature genetics, 2000-01, Vol.24 (1), p.18-19

2000

Volltextzugriff (PDF)

The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure

American journal of human genetics, 1998-01, Vol.62 (1), p.111-121

1998

Volltextzugriff (PDF)

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia

Clinical genetics, 2011-09, Vol.80 (3), p.265-272

2011

Volltextzugriff (PDF)

Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency

American journal of human genetics, 2001-07, Vol.69 (1), p.15-24

2001

Volltextzugriff (PDF)

Using Population Mixtures to Optimize the Utility of Genomic Databases: Linkage Disequilibrium and Association Study Design in India

Annals of human genetics, 2008-07, Vol.72 (4), p.535-546

2008

Volltextzugriff (PDF)

Evidence that a gene for essential tremor maps to chromosome 2p in four families

Movement disorders, 1998-11, Vol.13 (6), p.972-977

1998

Volltextzugriff (PDF)

Clinical, Radiographic, and Genetic Evaluation of a Novel Form of Autosomal-dominant Oligodontia

Journal of dental research, 2000-07, Vol.79 (7), p.1469-1475

2000

Volltextzugriff (PDF)

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

American journal of human genetics, 1997-05, Vol.60 (5), p.1251-1256

1997

Volltextzugriff (PDF)

Mapping of genes predisposing to idiopathic generalized epilepsy

Human molecular genetics, 1995-07, Vol.4 (7), p.1201-1207

1995

Volltextzugriff (PDF)

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

American journal of human genetics, 1996-05, Vol.58 (5), p.998-1007

1996

Volltextzugriff (PDF)

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Cell, 1991-07, Vol.66 (2), p.219-232

1991

Volltextzugriff (PDF)

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Human molecular genetics, 1994-02, Vol.3 (2), p.223-228

1994

Volltextzugriff (PDF)

Somatic Sequence Variation at the Friedreich Ataxia Locus Includes Complete Contraction of the Expanded GAA Triplet Repeat, Significant Length Variation in Serially Passaged Lymphoblasts and Enhanced Mutagenesis in the Flanking Sequence

Human molecular genetics, 1999-12, Vol.8 (13), p.2425-2436

1999

Volltextzugriff (PDF)

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

The New England journal of medicine, 1993-07, Vol.329 (2), p.96-101

1993

Volltextzugriff (PDF)

Molecular analysis of the Smith-Magenis syndrome : a possible contiguous-gene syndrome associated with del(17)(p11.2)

American journal of human genetics, 1991-12, Vol.49 (6), p.1207-1218

1991

Volltextzugriff (PDF)

Tooth dimensions in hypodontia with a known PAX9 mutation

Archives of oral biology, 2009-12, Vol.54, p.S57-S62

2009

Volltextzugriff (PDF)

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae

Human molecular genetics, 2000-10, Vol.9 (17), p.2523-2530

2000

Volltextzugriff (PDF)

Combining ability studies for yield, associated traits and quality attributes in rice for South Gujarat (Oryza sativa L.)

Journal of applied and natural science, 2017-03, Vol.9 (1), p.60-67

2017

Volltextzugriff (PDF)

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

Molecular and Cellular Biology, 1986-02, Vol.6 (2), p.393-403

1986

Volltextzugriff (PDF)

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

Human molecular genetics, 1995-04, Vol.4 (4), p.589-597

1995

Volltextzugriff (PDF)

Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

Neurology, 1998-08, Vol.51 (2), p.493-498

1998

Volltextzugriff (PDF)

Seeking families with missing teeth

British dental journal, 2001-03, Vol.190 (6), p.283-283

Patel, P I

2001

Volltextzugriff (PDF)

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Human genetics, 1996-12, Vol.98 (6), p.710-718

1996

Volltextzugriff (PDF)

Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies

Journal of neuroscience research, 2002-08, Vol.69 (4), p.497-508

2002

Volltextzugriff (PDF)

1 – 25 von 43.064

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(35.220)
Mit Volltextzugriff
(34.833)

Publikationsform

7 weitere anzeigen...

Weniger anzeigen...

Sprache

11 weitere anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(23.665)
Life Sciences & Biomedicine
(17.585)
Humans
(12.419)
Male
(7.034)
Female
(6.586)
Biological And Medical Sciences
(4.486)
Physical Sciences
(4.212)
Middle Aged
(4.188)
Adult
(3.916)
Medical Sciences
(3.523)
Aged
(3.346)
Animals
(3.346)
Technology
(3.230)
Surgery
(2.373)
Physics
(2.101)
Cardiovascular System & Cardiology
(1.818)
Chemistry
(1.712)
Oncology
(1.635)
Engineering
(1.555)
Adolescent
(1.516)

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

EZB Electronic Journals Library
(18.889)
Ingenta
(16.328)
MEDLINE
(15.384)
WK Lippincott Williams & Wilkins–Connect here FIRST to enable access
(13.885)
Elsevier ScienceDirect Journals Complete
(8.735)
Publisher or Other Site
(8.332)
IngentaConnect Journals
(7.018)
Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
(5.164)
Wiley Online Library
(4.770)
Wiley Online Library
(2.949)
SpringerLink
(2.850)
Oxford University Press Journals
(1.816)
Ebook Central Perpetual and DDA
(1.742)
eBooks on EBSCOhost
(1.672)
SpringerLINK Contemporary (Konsortium Baden-Württemberg)
(1.648)
IEEE Xplore
(1.320)
Oxford Journals 2020 Medicine
(1.314)
Springer Nature - Connect here FIRST to enable access
(1.219)
Taylor & Francis Journals Auto-Holdings Collection
(1.051)
Taylor & Francis:Master (3349 titles)
(980)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Blood
(471)
Journal Of Clinical Oncology
(354)
Physical Review Letters
(334)
Journal Of The American College Of Cardiology
(313)
Circulation
(296)
Annals Of Oncology
(279)
Physics Letters. B
(274)
The Journal Of Heart And Lung Transplantation
(254)
Cancer Research
(242)
Value In Health
(232)

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Mutation of PAX9 is associated with oligodontia

The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia

Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency

Using Population Mixtures to Optimize the Utility of Genomic Databases: Linkage Disequilibrium and Association Study Design in India

Evidence that a gene for essential tremor maps to chromosome 2p in four families

Clinical, Radiographic, and Genetic Evaluation of a Novel Form of Autosomal-dominant Oligodontia

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

Mapping of genes predisposing to idiopathic generalized epilepsy

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Somatic Sequence Variation at the Friedreich Ataxia Locus Includes Complete Contraction of the Expanded GAA Triplet Repeat, Significant Length Variation in Serially Passaged Lymphoblasts and Enhanced Mutagenesis in the Flanking Sequence

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

Molecular analysis of the Smith-Magenis syndrome : a possible contiguous-gene syndrome associated with del(17)(p11.2)

Tooth dimensions in hypodontia with a known PAX9 mutation

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae

Combining ability studies for yield, associated traits and quality attributes in rice for South Gujarat (Oryza sativa L.)

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

Seeking families with missing teeth

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies

Suchergebnisse filtern