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Iscience
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April 1, 2024
Clonal hematopoiesis is associated with cardiovascular events in patients with stable coronary artery disease
Mihaela I Dregoesc, Helin Tercan, Adrian B Țigu, et al.
Nature Communications
|
October 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, et al.
Antioxidants (Basel, Switzerland)
|
September 28, 2024
A Case-Control Study Supports Genetic Contribution of the <i>PON</i> Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease
Evelien Van Dijck, Sara Diels, Erik Fransen, et al.
NPJ Genomic Medicine
|
March 25, 2026
Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome
Suzanne E de Bruijn, Van den Born L Ingeborgh, Ronny Derks, et al.
Journal of Medical Genetics
|
February 12, 2015
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)
Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, et al.
NPJ Genomic Medicine
|
April 22, 2025
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome
Suzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, et al.
Journal of the American Heart Association
|
July 25, 2023
Clonal Hematopoiesis of Indeterminate Potential From a Heart Failure Specialist's Point of View
Maurits A Sikking, Sophie L V M Stroeks, Olivia J Waring, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2020
Novel GANAB variants associated with polycystic liver disease
Liyanne F M van de Laarschot, René H M Te Morsche, Alexander Hoischen, et al.
Plos One
|
July 18, 2013
Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain
Emeric F Bojarski, Adam C Strauss, Adam P Fagin, et al.
BMC Genomics
|
June 6, 2023
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation
Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, et al.
Page
of 25
Search research articles
Search
Showing results (51-60 of 249) with videos related to
Sort By:
Page
of 25
Iscience
|
April 1, 2024
Clonal hematopoiesis is associated with cardiovascular events in patients with stable coronary artery disease
Mihaela I Dregoesc, Helin Tercan, Adrian B Țigu, et al.
Nature Communications
|
October 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, et al.
Antioxidants (Basel, Switzerland)
|
September 28, 2024
A Case-Control Study Supports Genetic Contribution of the <i>PON</i> Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease
Evelien Van Dijck, Sara Diels, Erik Fransen, et al.
NPJ Genomic Medicine
|
March 25, 2026
Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome
Suzanne E de Bruijn, Van den Born L Ingeborgh, Ronny Derks, et al.
Journal of Medical Genetics
|
February 12, 2015
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)
Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, et al.
NPJ Genomic Medicine
|
April 22, 2025
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome
Suzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, et al.
Journal of the American Heart Association
|
July 25, 2023
Clonal Hematopoiesis of Indeterminate Potential From a Heart Failure Specialist's Point of View
Maurits A Sikking, Sophie L V M Stroeks, Olivia J Waring, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2020
Novel GANAB variants associated with polycystic liver disease
Liyanne F M van de Laarschot, René H M Te Morsche, Alexander Hoischen, et al.
Plos One
|
July 18, 2013
Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain
Emeric F Bojarski, Adam C Strauss, Adam P Fagin, et al.
BMC Genomics
|
June 6, 2023
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation
Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, et al.
Page
of 25