UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 149

Sortiert nach

Principles of molecular testing for hereditary cancer

Genes chromosomes & cancer, 2022-06, Vol.61 (6), p.356-381

2022

Link zum Volltext

Verfügbarkeit prüfen

Validation of low-pass genome sequencing for prenatal diagnosis

Prenatal diagnosis, 2024-04, Vol.44 (4), p.443-453

2024

Link zum Volltext

Verfügbarkeit prüfen

Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer

Cancer, 2020-11, Vol.126 (22), p.4886-4894

2020

Link zum Volltext

Verfügbarkeit prüfen

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

Human mutation, 2009-07, Vol.30 (7), p.1072-1081

2009

Link zum Volltext

Verfügbarkeit prüfen

HLA Variation and SARS-CoV-2 Specific Antibody Response

Viruses, 2023-03, Vol.15 (4), p.906

2023

Link zum Volltext

Verfügbarkeit prüfen

Characteristics of Adrenal Masses in Familial Adenomatous Polyposis

Diseases of the colon & rectum, 2018-06, Vol.61 (6), p.679-685

2018

Link zum Volltext

Verfügbarkeit prüfen

Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

Cancer medicine (Malden, MA), 2023-03, Vol.12 (6), p.7580-7587

2023

Link zum Volltext

Verfügbarkeit prüfen

The clinical implementation of whole genome sequencing: a conversation with seven scientific experts

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.689-693

Lerner-Ellis, Jordan P.

2012

Link zum Volltext

Verfügbarkeit prüfen

Ethics and genomic medicine, how to navigate decisions in surgical oncology

Journal of surgical oncology, 2015-01, Vol.111 (1), p.18-23

2015

Link zum Volltext

Verfügbarkeit prüfen

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Nature genetics, 2006-01, Vol.38 (1), p.93-100

2006

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

JIMD reports, 2019-03, Vol.46 (1), p.63-69

2019

Link zum Volltext

Verfügbarkeit prüfen

Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing

Cancer, 2014-12, Vol.120 (24), p.3932-3939

2014

Link zum Volltext

Verfügbarkeit prüfen

Combined methylmalonic aciduria and homocystinuria ( cblC): Phenotype–genotype correlations and ethnic-specific observations

Molecular genetics and metabolism, 2006-08, Vol.88 (4), p.315-321

2006

Link zum Volltext

Verfügbarkeit prüfen

Clinical DNA Variant Interpretation: Theory and Practice

1, 2021

Link zum Volltext

Verfügbarkeit prüfen

Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

American journal of medical genetics. Part A, 2007-10, Vol.143A (20), p.2430-2434

2007

Link zum Volltext

Verfügbarkeit prüfen

Gene Identification for the cblD Defect of Vitamin B12 Metabolism

The New England journal of medicine, 2008-04, Vol.358 (14), p.1454-1464

2008

Link zum Volltext

Verfügbarkeit prüfen

Great expectations: patients’ preferences for clinically significant results from genomic sequencing

Human genetics, 2023-04, Vol.142 (4), p.553-562

2023

Link zum Volltext

Verfügbarkeit prüfen

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

Molecular genetics and metabolism, 2014-06, Vol.112 (2), p.171-176

2014

Link zum Volltext

Verfügbarkeit prüfen

Genetic testing for Lynch syndrome in the province of Ontario

Cancer, 2016-06, Vol.122 (11), p.1672-1679

2016

Link zum Volltext

Verfügbarkeit prüfen

P782: Validation of low-pass genome sequencing for prenatal diagnosis

Genetics in Medicine Open, 2024, Vol.2, p.101690

2024

Link zum Volltext

Verfügbarkeit prüfen

Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements

Cancers, 2020-11, Vol.12 (11), p.3468

2020

Link zum Volltext

Verfügbarkeit prüfen

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

Human mutation, 2004-12, Vol.24 (6), p.509-516

2004

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 149

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(146)
Mit Volltextzugriff
(140)

Publikationsform

Artikel
(147)
Bücher
(1)
Berichte
(1)

Sprache

Englisch
(149)
Japanisch
(6)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(14)

Menü

Weitere Dienste

Einstellungen

Principles of molecular testing for hereditary cancer

Validation of low-pass genome sequencing for prenatal diagnosis

Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

Maximizing cancer prevention through genetic navigation for Lynch syndrome detection in women with newly diagnosed endometrial and nonserous/nonmucinous epithelial ovarian cancer

HLA Variation and SARS-CoV-2 Specific Antibody Response

Characteristics of Adrenal Masses in Familial Adenomatous Polyposis

Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

The clinical implementation of whole genome sequencing: a conversation with seven scientific experts

Ethics and genomic medicine, how to navigate decisions in surgical oncology

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing

Combined methylmalonic aciduria and homocystinuria ( cblC): Phenotype–genotype correlations and ethnic-specific observations

Clinical DNA Variant Interpretation: Theory and Practice

Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

Gene Identification for the cblD Defect of Vitamin B12 Metabolism

Great expectations: patients’ preferences for clinically significant results from genomic sequencing

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

Genetic testing for Lynch syndrome in the province of Ontario

P782: Validation of low-pass genome sequencing for prenatal diagnosis

Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

Characterizing Risk Factors for Hospitalization and Clinical Characteristics in a Cohort of COVID-19 Patients Enrolled in the GENCOV Study

Suchergebnisse filtern