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...

Co‐occurring Down syndrome and SUCLA2‐related mitochondrial depletion syndrome

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2720-2724

2017

Volltextzugriff (PDF)

Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus

American journal of medical genetics. Part A, 2013-03, Vol.161 (3), p.605-610

2013

Volltextzugriff (PDF)

Timeless functions independently of the Tim-Tipin complex to promote sister chromatid cohesion in normal human fibroblasts

Cell cycle (Georgetown, Tex.), 2011-05, Vol.10 (10), p.1618-1624

2011

Volltextzugriff (PDF)

A rational approach to genetic testing for sarcoma

Diagnostic molecular pathology, 2009-03, Vol.18 (1), p.1-10

2009

Volltextzugriff (PDF)

Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Archives of pathology & laboratory medicine (1976), 2021-02, Vol.145 (2), p.176-190

2021

Volltextzugriff (PDF)

Clinicopathologic features of breast cancer reclassified as HER2-amplified by fluorescence in situ hybridization with alternative chromosome 17 probes

Annals of diagnostic pathology, 2020-10, Vol.48, p.151576-151576, Article 151576

2020

Volltextzugriff (PDF)

Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome

American journal of perinatology, 2010-08, Vol.27 (7), p.559-563

2010

Volltextzugriff (PDF)

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.754-761

2012

Volltextzugriff (PDF)

Abstract P4-10-21: Utility of HER2 IHC intensity in selecting areas for FISH testing in equivocal (2+) cases

Cancer research (Chicago, Ill.), 2020-02, Vol.80 (4_Supplement), p.P4-P4-10-21

2020

Volltextzugriff (PDF)

46. Recurrent 16p13.11 Microduplications: A retrospective review of 16 cases identified at the University of North Carolina

Cancer genetics, 2021-04, Vol.252-253, p.S16-S16

2021

Volltextzugriff (PDF)

Conventional Cytogenetic Analysis of Hematologic Neoplasms

Archives of pathology & laboratory medicine (1976), 2021-02, Vol.145 (2), p.176-190

2021

Volltextzugriff (PDF)

Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements

American journal of medical genetics, 2000-11, Vol.95 (1), p.28-35

2000

Volltextzugriff (PDF)

DNA Helicases

Annual review of biochemistry, 1990-01, Vol.59 (1), p.289-329

1990

Volltextzugriff (PDF)

Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus

American Journal of Medical Genetics Part A, 2013, Vol.161A (3), p.605-610

2013

Volltextzugriff (PDF)

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

Prenatal diagnosis, 2013-06, Vol.33 (6), p.609-611

2013

Volltextzugriff (PDF)

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

PloS one, 2018-12, Vol.13 (12), p.e0209185-e0209185

2018

Volltextzugriff (PDF)

Aortopathy in the 7q11.23 microduplication syndrome

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.363-370

2015

Volltextzugriff (PDF)

Cell‐free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21

Clinical case reports, 2016-01, Vol.4 (1), p.19-22

2016

Volltextzugriff (PDF)

Prenatal diagnosis of mosaic complete trisomy 1q

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1801-1805

2009

Volltextzugriff (PDF)

eP402: Partial trisomy of chromosome 22 mediated by chromoanasynthesis in an 8-month-old male

Genetics in medicine, 2022-03, Vol.24 (3), p.S253-S253

2022

Volltextzugriff (PDF)

eP380 - A rare case of mosaicism for a digynic triploid cell line in an 8-year-old male

Molecular genetics and metabolism, 2021-04, Vol.132, p.S246-S247

2021

Volltextzugriff (PDF)

A rare case of mosaicism for a digynic triploid cell line in an 8-year-old male

Molecular genetics and metabolism, 2021-04, Vol.132, p.S246-S247

2021

Volltextzugriff (PDF)

Submicroscopic deletion 9(q34.4) and duplication 19(p13.3): Identified by subtelomere specific FISH probes

American journal of medical genetics, 2004-02, Vol.125A (1), p.67-72

2004

Volltextzugriff (PDF)

Lymphomas with pseudo–double-hit BCL6-MYC translocations due to t(3;8)(q27;q24) are associated with a germinal center immunophenotype, extranodal involvement, and frequent BCL2 translocations

Human pathology, 2018-10, Vol.80, p.192-200

2018

Volltextzugriff (PDF)

Cytokine Receptor-like Factor 2 (CRLF2) Overexpression in Myeloid Malignancies Secondary to Multiple Isodicentric Y Chromosomes: A Novel Cytogenetic Entity?

Blood, 2017-12, Vol.130, p.1702-1702

2017

Volltextzugriff (PDF)

1 – 25 von 47

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(35)
Mit Volltextzugriff
(42)

Publikationsform

Sprache

Englisch
(47)
Japanisch
(4)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Co‐occurring Down syndrome and SUCLA2‐related mitochondrial depletion syndrome

Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus

Timeless functions independently of the Tim-Tipin complex to promote sister chromatid cohesion in normal human fibroblasts

A rational approach to genetic testing for sarcoma

Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Clinicopathologic features of breast cancer reclassified as HER2-amplified by fluorescence in situ hybridization with alternative chromosome 17 probes

Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Abstract P4-10-21: Utility of HER2 IHC intensity in selecting areas for FISH testing in equivocal (2+) cases

46. Recurrent 16p13.11 Microduplications: A retrospective review of 16 cases identified at the University of North Carolina

Conventional Cytogenetic Analysis of Hematologic Neoplasms

Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements

DNA Helicases

Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Aortopathy in the 7q11.23 microduplication syndrome

Cell‐free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21

Prenatal diagnosis of mosaic complete trisomy 1q

eP402: Partial trisomy of chromosome 22 mediated by chromoanasynthesis in an 8-month-old male

eP380 - A rare case of mosaicism for a digynic triploid cell line in an 8-year-old male

A rare case of mosaicism for a digynic triploid cell line in an 8-year-old male

Submicroscopic deletion 9(q34.4) and duplication 19(p13.3): Identified by subtelomere specific FISH probes

Lymphomas with pseudo–double-hit BCL6-MYC translocations due to t(3;8)(q27;q24) are associated with a germinal center immunophenotype, extranodal involvement, and frequent BCL2 translocations

Cytokine Receptor-like Factor 2 (CRLF2) Overexpression in Myeloid Malignancies Secondary to Multiple Isodicentric Y Chromosomes: A Novel Cytogenetic Entity?

Suchergebnisse filtern