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...

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

Genome Research, 2006-09, Vol.16 (9), p.1136-1148

2006

Volltextzugriff (PDF)

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2540-2550

2016

Volltextzugriff (PDF)

DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

American journal of human genetics, 2012-09, Vol.91 (3), p.444-454

2012

Volltextzugriff (PDF)

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

Human molecular genetics, 2009-10, Vol.18 (19), p.3579-3593

2009

Volltextzugriff (PDF)

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.969-978

2014

Volltextzugriff (PDF)

Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

American journal of human genetics, 2014-11, Vol.95 (5), p.565-578

2014

Volltextzugriff (PDF)

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis

Journal of human genetics, 2019-03, Vol.64 (3), p.253-255

2019

Volltextzugriff (PDF)

6q22.1 microdeletion and susceptibility to pediatric epilepsy

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.173-179

2015

Volltextzugriff (PDF)

Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2737-2741

2015

Volltextzugriff (PDF)

A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1758-1762

2009

Volltextzugriff (PDF)

The array CGH and its clinical applications

Drug discovery today, 2008-09, Vol.13 (17), p.760-770

2008

Volltextzugriff (PDF)

SHANK3 overexpression causes manic―like behaviour with unique pharmacogenetic properties

Nature (London), 2013-11, Vol.503 (7474), p.72-77

2013

Volltextzugriff (PDF)

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Nature genetics, 2008-06, Vol.40 (6), p.719-721

2008

Volltextzugriff (PDF)

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

American journal of human genetics, 2014-08, Vol.95 (2), p.173-182

2014

Volltextzugriff (PDF)

Development of a Focused Oligonucleotide-Array Comparative Genomic Hybridization Chip for Clinical Diagnosis of Genomic Imbalance

Clinical chemistry (Baltimore, Md.), 2007-12, Vol.53 (12), p.2051-2059

2007

Volltextzugriff (PDF)

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

Nature communications, 2018-11, Vol.9 (1), p.4885-15, Article 4885

2018

Volltextzugriff (PDF)

Hep G2 is a hepatoblastoma-derived cell line

Human pathology, 2009-10, Vol.40 (10), p.1512-1515

2009

Volltextzugriff (PDF)

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Journal of medical genetics, 2010-05, Vol.47 (5), p.332-341

2010

Volltextzugriff (PDF)

Introductory comments on special section-Genomic microduplications: When adding may equal subtracting

American journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1063-1065

2010

Volltextzugriff (PDF)

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.79-87

2014

Volltextzugriff (PDF)

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Nature genetics, 2009-12, Vol.41 (12), p.1269-1271

2009

Volltextzugriff (PDF)

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Human molecular genetics, 2015-07, Vol.24 (14), p.4061-4077

2015

Volltextzugriff (PDF)

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Nature genetics, 2011-11, Vol.43 (11), p.1074-1081

2011

Volltextzugriff (PDF)

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

American journal of medical genetics. Part A, 2007-06, Vol.143A (12), p.1358-1365

2007

Volltextzugriff (PDF)

1 – 25 von 346

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(320)
Mit Volltextzugriff
(319)

Publikationsform

Sprache

Englisch
(346)
Japanisch
(59)
Deutsch
(1)

Erscheinungsjahr

n.n

Thema

Science & Technology
(265)
Life Sciences & Biomedicine
(247)
Humans
(214)
Female
(142)
Male
(138)
Genetics & Heredity
(133)
Biological And Medical Sciences
(81)
Medical Sciences
(69)
Child
(63)
Child, Preschool
(60)
Adult
(53)
Comparative Genomic Hybridization
(51)
Chromosome Deletion
(48)
Fundamental And Applied Biological Sciences. Psychology
(48)
Medical Genetics
(48)
Infant
(46)
Adolescent
(44)
Genetics Of Eukaryotes. Biological And Molecular Evolution
(42)
Phenotype
(42)
Chromosome Aberrations
(40)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 7 Tagen
(1)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis

6q22.1 microdeletion and susceptibility to pediatric epilepsy

Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome

A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder

The array CGH and its clinical applications

SHANK3 overexpression causes manic―like behaviour with unique pharmacogenetic properties

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Development of a Focused Oligonucleotide-Array Comparative Genomic Hybridization Chip for Clinical Diagnosis of Genomic Imbalance

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

Hep G2 is a hepatoblastoma-derived cell line

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Introductory comments on special section-Genomic microduplications: When adding may equal subtracting

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

Suchergebnisse filtern