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European Journal of Human Genetics : EJHG
|
May 15, 2023
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients
Jan Henkel, Andreas Laner, Melanie Locher, et al.
Human Gene Therapy
|
April 14, 2010
Escherichia coli-cloned CFTR loci relevant for human artificial chromosome therapy
Lucia Rocchi, Carla Braz, Sonja Cattani, et al.
Frontiers in Oncology
|
January 13, 2023
Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants
Ariane Hallermayr, Teresa M Neuhann, Verena Steinke-Lange, et al.
Annals of Human Genetics
|
July 15, 2025
From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation
Andreas Laner, Bin Alwi Zilfalil, Sherifa Ahmed Hamed, et al.
Familial Cancer
|
May 22, 2017
Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6
Monika Morak, Sarah Käsbauer, Martina Kerscher, et al.
Journal of Medical Genetics
|
February 24, 2018
Comprehensive analysis of the <i>MLH1</i> promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional <i>MLH1</i> epimutation
Monika Morak, Ayseguel Ibisler, Gisela Keller, et al.
Journal of Neuromuscular Diseases
|
April 5, 2024
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes
Adela Della Marina, Andreas Hentschel, Artur Czech, et al.
European Journal of Human Genetics : EJHG
|
July 24, 2019
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes
Monika Morak, Kerstin Schaefer, Verena Steinke-Lange, et al.
International Journal of Cancer
|
December 5, 2025
Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics
Mayra Sauer, Morghan C Lucas, Vitus Prokosch, et al.
Journal of Medical Genetics
|
January 2, 2023
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, et al.
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Search research articles
Search
Showing results (21-30 of 48) with videos related to
Sort By:
Page
of 5
European Journal of Human Genetics : EJHG
|
May 15, 2023
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients
Jan Henkel, Andreas Laner, Melanie Locher, et al.
Human Gene Therapy
|
April 14, 2010
Escherichia coli-cloned CFTR loci relevant for human artificial chromosome therapy
Lucia Rocchi, Carla Braz, Sonja Cattani, et al.
Frontiers in Oncology
|
January 13, 2023
Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants
Ariane Hallermayr, Teresa M Neuhann, Verena Steinke-Lange, et al.
Annals of Human Genetics
|
July 15, 2025
From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation
Andreas Laner, Bin Alwi Zilfalil, Sherifa Ahmed Hamed, et al.
Familial Cancer
|
May 22, 2017
Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6
Monika Morak, Sarah Käsbauer, Martina Kerscher, et al.
Journal of Medical Genetics
|
February 24, 2018
Comprehensive analysis of the <i>MLH1</i> promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional <i>MLH1</i> epimutation
Monika Morak, Ayseguel Ibisler, Gisela Keller, et al.
Journal of Neuromuscular Diseases
|
April 5, 2024
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes
Adela Della Marina, Andreas Hentschel, Artur Czech, et al.
European Journal of Human Genetics : EJHG
|
July 24, 2019
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes
Monika Morak, Kerstin Schaefer, Verena Steinke-Lange, et al.
International Journal of Cancer
|
December 5, 2025
Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics
Mayra Sauer, Morghan C Lucas, Vitus Prokosch, et al.
Journal of Medical Genetics
|
January 2, 2023
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, et al.
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of 5