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...

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

International journal of molecular sciences, 2022-03, Vol.23 (7), p.3905

2022

Volltextzugriff (PDF)

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies

American journal of medical genetics. Part A, 2006-08, Vol.140A (16), p.1711-1718

2006

Volltextzugriff (PDF)

Tumor protein D52 (TPD52) is overexpressed and a gene amplification target in ovarian cancer

International journal of cancer, 2005-12, Vol.117 (6), p.1049-1054

2005

Volltextzugriff (PDF)

SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory

Pathology, 2023-10, Vol.55 (6), p.818-826

2023

Volltextzugriff (PDF)

Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and wilms' tumorigenesis

Cancer research (Chicago, Ill.), 2007-03, Vol.67 (5), p.2360-2365

2007

Volltextzugriff (PDF)

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

American journal of medical genetics, 2005-02, Vol.132A (4), p.381-385

2005

Volltextzugriff (PDF)

Three patients with terminal deletions within the subtelomeric region of chromosome 9q

American journal of medical genetics, 2005-02, Vol.132A (4), p.425-430

2005

Volltextzugriff (PDF)

Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma

Twin research and human genetics, 2008-08, Vol.11 (4), p.412-421

2008

Volltextzugriff (PDF)

FISH analysis of brain smears obtained at intraoperative diagnosis – An accurate and fast method to detect 1p/19q-codeletion in gliomas

Journal of clinical neuroscience, 2021-10, Vol.92, p.115-119

2021

Volltextzugriff (PDF)

Saliva DNA : An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism

American journal of medical genetics. Part A, 2023-12, Vol.191 (12), p.2913-2920

2023

Volltextzugriff (PDF)

Chromosome loops arising from intrachromosomal tethering of telomeres occur at high frequency in G1 (non-cycling) mitotic cells: Implications for telomere capture

Cell & chromosome, 2004-09, Vol.3 (1), p.3-3, Article 3

2004

Volltextzugriff (PDF)

A Paediatric Acute Promyelocytic Leukaemia Patient Harbouring a Cryptic PML-RARA Insertion due to a Complex Structural Chromosome 17 Rearrangement

Cytogenetic and genome research, 2017-01, Vol.153 (4), p.181-189

2017

Volltextzugriff (PDF)

FLT3 and NPM1 mutations in acute myeloid leukemia (AML) with double trisomy of chromosomes 8 and 21

Pathology, 2015, Vol.47, p.S87-S87

2015

Volltextzugriff (PDF)

Infantile fibrosarcoma: beware the small biopsy

Pathology, 2015, Vol.47, p.S80-S80

2015

Volltextzugriff (PDF)

Use of FISH in an aggressive diffuse large B cell lymphoma

Pathology, 2003, Vol.35 (1), p.90-92

2003

Volltextzugriff (PDF)

A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1930-1933

2016

Volltextzugriff (PDF)

Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader–Willi and Angelman syndrome

Annales de génétique, 2002-10, Vol.45 (4), p.189-191

2002

Volltextzugriff (PDF)

Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH

American journal of medical genetics, 2002-12, Vol.113 (4), p.346-350

2002

Volltextzugriff (PDF)

Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres

Cell & chromosome, 2008-03, Vol.7 (1), p.1-1, Article 1

2008

Volltextzugriff (PDF)

Review of referrals for the FISH detection of Williams syndrome highlights the importance of testing in supravalvular aortic stenosis/pulmonary stenosis

American journal of medical genetics, 2001-01, Vol.98 (1), p.109-111

2001

Volltextzugriff (PDF)

Use of FISH in an aggressive diffuse large B cell lymphoma

Pathology, 2003-02, Vol.35 (1), p.90-92

2003

Volltextzugriff (PDF)

Use of FISH in an aggressive diffuse large B cell lymphoma

Pathology, 2003-02, Vol.35 (1), p.90-92

2003

Volltextzugriff (PDF)

A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

American journal of medical genetics. Part A, 2016, Vol.170 (7), p.1930-1933

2016

Volltextzugriff (PDF)

Abnormal dicentric chromosome with co-amplification of sequences from chromosomes 11 and 19: a novel rearrangement in a patient with myelodysplastic syndrome transforming to acute myeloid leukemia

Cancer genetics and cytogenetics, 2001-10, Vol.130 (1), p.29-32

2001

Volltextzugriff (PDF)

Abnormal dicentric chromosome with co-amplification of sequences from chromosomes 11 and 19

Cancer genetics and cytogenetics, 2001-10, Vol.130 (1), p.29-32

2001

Volltextzugriff (PDF)

1 – 25 von 28

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(19)
Mit Volltextzugriff
(28)

Publikationsform

Artikel
(26)
Berichte
(2)

Sprache

Englisch
(28)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies

Tumor protein D52 (TPD52) is overexpressed and a gene amplification target in ovarian cancer

SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory

Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and wilms' tumorigenesis

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

Three patients with terminal deletions within the subtelomeric region of chromosome 9q

Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma

FISH analysis of brain smears obtained at intraoperative diagnosis – An accurate and fast method to detect 1p/19q-codeletion in gliomas

Saliva DNA : An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism

Chromosome loops arising from intrachromosomal tethering of telomeres occur at high frequency in G1 (non-cycling) mitotic cells: Implications for telomere capture

A Paediatric Acute Promyelocytic Leukaemia Patient Harbouring a Cryptic PML-RARA Insertion due to a Complex Structural Chromosome 17 Rearrangement

FLT3 and NPM1 mutations in acute myeloid leukemia (AML) with double trisomy of chromosomes 8 and 21

Infantile fibrosarcoma: beware the small biopsy

Use of FISH in an aggressive diffuse large B cell lymphoma

A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader–Willi and Angelman syndrome

Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH

Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres

Review of referrals for the FISH detection of Williams syndrome highlights the importance of testing in supravalvular aortic stenosis/pulmonary stenosis

Use of FISH in an aggressive diffuse large B cell lymphoma

Use of FISH in an aggressive diffuse large B cell lymphoma

A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

Abnormal dicentric chromosome with co-amplification of sequences from chromosomes 11 and 19: a novel rearrangement in a patient with myelodysplastic syndrome transforming to acute myeloid leukemia

Abnormal dicentric chromosome with co-amplification of sequences from chromosomes 11 and 19

Suchergebnisse filtern