Showing results (271-280 of 313) with videos related to
Sort By:
Pageof 32
Prenatal Diagnosis|May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomaliesAndreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.Ebiomedicine|September 16, 2023
UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescentsAlexandra Liebmann, Jakob Admard, Sorin Armeanu-Ebinger, et al.Human Genetics|July 19, 2006
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's diseaseSilke Metzger, Peter Bauer, Jürgen Tomiuk, et al.Genome Medicine|May 2, 2019
Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinomaMarkus W Löffler, Christopher Mohr, Leon Bichmann, et al.Orphanet Journal of Rare Diseases|August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a TreatabolomeAntonio Atalaia, Rachel Thompson, Alberto Corvo, et al.Journal of Hepatology|July 12, 2016
Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patientMarkus W Löffler, P Anoop Chandran, Karoline Laske, et al.Journal of Medical Genetics|September 21, 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.Neurogenetics|December 22, 2005
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's diseaseSilke Metzger, Peter Bauer, Juergen Tomiuk, et al.Journal of Neurology|December 12, 2024
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3Tim Lukas Elter, Daniel Sturm, Magda M Santana, et al.Pageof 32