UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 64

Sortiert nach

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

The Journal of molecular diagnostics : JMD, 2015-07, Vol.17 (4), p.456-461

2015

Link zum Volltext

Verfügbarkeit prüfen

Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing

Mayo Clinic proceedings, 2018-01, Vol.93 (1), p.113-120

2018

Link zum Volltext

Verfügbarkeit prüfen

Genomic Medicine and Incidental Findings: Balancing Actionability and Patient Autonomy

Mayo Clinic proceedings, 2014-06, Vol.89 (6), p.718-721

2014

Link zum Volltext

Verfügbarkeit prüfen

Preferential integration of human papillomavirus type 18 near the c-myc locus in cervical carcinoma

Oncogene, 2003-10, Vol.22 (46), p.7233-7242

2003

Link zum Volltext

Verfügbarkeit prüfen

Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirus

Journal of clinical microbiology, 2023-10, Vol.61 (10), p.e0042923-e0042923

2023

Link zum Volltext

Verfügbarkeit prüfen

Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine

Clinical chemistry (Baltimore, Md.), 2017-03, Vol.63 (3), p.632-634

2017

Link zum Volltext

Verfügbarkeit prüfen

Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2)

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2798-2802

2018

Link zum Volltext

Verfügbarkeit prüfen

Characterization of hMLH1 and hMSH2 Gene Dosage Alterations in Lynch Syndrome Patients

Gastroenterology (New York, N.Y. 1943), 2005-09, Vol.129 (3), p.846-854

2005

Link zum Volltext

Verfügbarkeit prüfen

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Genetics in medicine, 2019-07, Vol.21 (7), p.1507-1516

2019

Link zum Volltext

Verfügbarkeit prüfen

APC Germline Mutations in Individuals Being Evaluated for Familial Adenomatous Polyposis

The Journal of molecular diagnostics : JMD, 2013, Vol.15 (1), p.31-43

2013

Link zum Volltext

Verfügbarkeit prüfen

APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests

The Journal of molecular diagnostics : JMD, 2013-01, Vol.15 (1), p.31-43

2013

Link zum Volltext

Verfügbarkeit prüfen

Wilson Disease--keeping the bar for diagnosis raised

Hepatology (Baltimore, Md.), 2005-10, Vol.42 (4), p.974-974

2005

Link zum Volltext

Verfügbarkeit prüfen

Expanding DNA diagnostic panel testing: is more better?

Expert review of molecular diagnostics, 2011-09, Vol.11 (7), p.703-709

2011

Link zum Volltext

Verfügbarkeit prüfen

Implementing individualized medicine into the medical practice

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-03, Vol.166C (1), p.15-23

2014

Link zum Volltext

Verfügbarkeit prüfen

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Cold Spring Harbor molecular case studies, 2017-11, Vol.3 (6), p.a002162

2017

Link zum Volltext

Verfügbarkeit prüfen

Combining rare and common genetic variants improves population risk stratification for breast cancer

Genetics in Medicine Open, 2024, Vol.2, p.101826, Article 101826

2024

Link zum Volltext

Verfügbarkeit prüfen

Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics

Clinical chemistry (Baltimore, Md.), 2010-08, Vol.56 (8), p.1297-1306

2010

Link zum Volltext

Verfügbarkeit prüfen

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2356-2359

2014

Link zum Volltext

Verfügbarkeit prüfen

Preserving personal autonomy in a genomic testing era

Genetics in medicine, 2013-05, Vol.15 (5), p.408-409

2013

Link zum Volltext

Verfügbarkeit prüfen

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes

Molecular genetics & genomic medicine, 2017-09, Vol.5 (5), p.553-569

2017

Link zum Volltext

Verfügbarkeit prüfen

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Cold Spring Harbor molecular case studies, 2017-05, Vol.3 (3), p.a001743-a001743

2017

Link zum Volltext

Verfügbarkeit prüfen

Preemptive Pharmacogenomic Testing for Precision Medicine

The Journal of molecular diagnostics : JMD, 2016-05, Vol.18 (3), p.438-445

2016

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 64

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(56)
Mit Volltextzugriff
(61)

Publikationsform

Artikel
(60)
Berichte
(4)

Sprache

Englisch
(64)
Japanisch
(12)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing

Genomic Medicine and Incidental Findings: Balancing Actionability and Patient Autonomy

Preferential integration of human papillomavirus type 18 near the c-myc locus in cervical carcinoma

Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirus

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2)

Characterization of hMLH1 and hMSH2 Gene Dosage Alterations in Lynch Syndrome Patients

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

APC Germline Mutations in Individuals Being Evaluated for Familial Adenomatous Polyposis

APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests

Wilson Disease--keeping the bar for diagnosis raised

Expanding DNA diagnostic panel testing: is more better?

Implementing individualized medicine into the medical practice

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Combining rare and common genetic variants improves population risk stratification for breast cancer

Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism

Preserving personal autonomy in a genomic testing era

Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Preemptive Pharmacogenomic Testing for Precision Medicine

Suchergebnisse filtern