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...

Kahve Çekirdeği Kalitesi Sıralamasında TOPSIS Yöntemi Yaklaşımı

Ekoist journal of econometrics and statistics, 2024-06 (40), p.46-62

Boyar, Fatih

2024

Volltextzugriff (PDF)

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.663-671

2015

Volltextzugriff (PDF)

Dynamic Histone Modifications Mark Sex Chromosome Inactivation and Reactivation during Mammalian Spermatogenesis

Proceedings of the National Academy of Sciences - PNAS, 2004-11, Vol.101 (47), p.16583-16587

2004

Volltextzugriff (PDF)

Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature

Molecular cytogenetics, 2013-09, Vol.6 (1), p.36-36

2013

Volltextzugriff (PDF)

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

Molecular cytogenetics, 2014-04, Vol.7 (1), p.27-27

2014

Volltextzugriff (PDF)

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD

Neuromuscular disorders : NMD, 2015-12, Vol.25 (12), p.945-951

2015

Volltextzugriff (PDF)

Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge

Molecular cytogenetics, 2016-08, Vol.9 (1), p.64-64, Article 64

2016

Volltextzugriff (PDF)

Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory

Molecular cytogenetics, 2014-05, Vol.7 (1), p.33-33, Article 33

2014

Volltextzugriff (PDF)

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1

Molecular cytogenetics, 2017-09, Vol.10 (1), p.33-6, Article 33

2017

Volltextzugriff (PDF)

Fluorescence in situ hybridization and K-ras analyses improve diagnostic yield of endoscopic ultrasound-guided fine-needle aspiration of solid pancreatic masses

Pancreas, 2011-10, Vol.40 (7), p.1057-1062

2011

Volltextzugriff (PDF)

Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

Molecular cytogenetics, 2016-11, Vol.9 (1), p.82-82, Article 82

2016

Volltextzugriff (PDF)

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

Molecular cytogenetics, 2013-05, Vol.6 (1), p.17-17

2013

Volltextzugriff (PDF)

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

Molecular cytogenetics, 2014-08, Vol.7 (1), p.50-50

2014

Volltextzugriff (PDF)

Neocentric X-chromosome in a girl with Turner-like syndrome

Molecular cytogenetics, 2012-06, Vol.5 (1), p.29-29, Article 29

2012

Volltextzugriff (PDF)

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Molecular cytogenetics, 2012-01, Vol.5 (1), p.3-3, Article 3

2012

Volltextzugriff (PDF)

Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results

Molecular cytogenetics, 2014-05, Vol.7 (1), p.35-35

2014

Volltextzugriff (PDF)

Sa1522 Neosquamous Epithelium After Radiofrequency and Cryoablation of Barrett's Esophagus Displays Genetic Abnormalities: FISH Analysis

Gastrointestinal endoscopy, 2011-04, Vol.73 (4), p.AB195-AB196

2011

Volltextzugriff (PDF)

Paternal mosaic inv(20) resulting in a recombinant chromosome 20 in two siblings

Pediatrics international, 2010-06, Vol.52 (3), p.492-495

2010

Volltextzugriff (PDF)

M1448: FISH and Kras Mutational Analysis Improves Diagnostic Yield of EUS-Guided Fine Needle Aspiration of Solid Pancreatic Masses

Gastrointestinal endoscopy, 2010-04, Vol.71 (5), p.AB224-AB224

2010

Volltextzugriff (PDF)

Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays

Molecular cytogenetics, 2014-01, Vol.7 (Suppl 1), p.O4-O4, Article O4

2014

Volltextzugriff (PDF)

Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing

The Journal of molecular diagnostics : JMD, 2024-10, Vol.26 (10), p.906-916

2024

Volltextzugriff (PDF)

42. Plasma cell myeloma with a novel CCND1/ETV6 translocation

Cancer genetics, 2019-04, Vol.233-234, p.S17-S17

2019

Volltextzugriff (PDF)

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

Journal of pediatric genetics (Birmingham, Ala.), 2012-06, Vol.1 (2), p.115-124

2012

Volltextzugriff (PDF)

Single Nucleotide Polymorphism-Based Chromosomal Microarray Evaluation of Hydatidiform Moles: A US National Reference Laboratory Experience

Open journal of obstetrics and gynecology, 2020, Vol.10 (8), p.1122-1134

2020

Volltextzugriff (PDF)

Molecular Combing compared to Southern Blot in Measuring D4Z4 Contractions in FSHD (P2.027)

Neurology, 2015-04, Vol.84 (14_supplement)

2015

Volltextzugriff (PDF)

1 – 25 von 40

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(32)
Mit Volltextzugriff
(37)

Publikationsform

Artikel
(34)
Berichte
(6)

Sprache

Englisch
(40)
Türkisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Kahve Çekirdeği Kalitesi Sıralamasında TOPSIS Yöntemi Yaklaşımı

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

Dynamic Histone Modifications Mark Sex Chromosome Inactivation and Reactivation during Mammalian Spermatogenesis

Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD

Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge

Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1

Fluorescence in situ hybridization and K-ras analyses improve diagnostic yield of endoscopic ultrasound-guided fine-needle aspiration of solid pancreatic masses

Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

Neocentric X-chromosome in a girl with Turner-like syndrome

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results

Sa1522 Neosquamous Epithelium After Radiofrequency and Cryoablation of Barrett's Esophagus Displays Genetic Abnormalities: FISH Analysis

Paternal mosaic inv(20) resulting in a recombinant chromosome 20 in two siblings

M1448: FISH and Kras Mutational Analysis Improves Diagnostic Yield of EUS-Guided Fine Needle Aspiration of Solid Pancreatic Masses

Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays

Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing

42. Plasma cell myeloma with a novel CCND1/ETV6 translocation

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

Single Nucleotide Polymorphism-Based Chromosomal Microarray Evaluation of Hydatidiform Moles: A US National Reference Laboratory Experience

Molecular Combing compared to Southern Blot in Measuring D4Z4 Contractions in FSHD (P2.027)

Suchergebnisse filtern