Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Bekim Sadikovic

Showing results (111-120 of 218) with videos related to

Pageof 22
Sort By:
Current Oncology (Toronto, Ont.)|April 26, 2024
Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or <i>SF3B1</i> Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart ReviewShamim Mortuza, Benjamin Chin-Yee, Tyler E James, et al.
American Journal of Human Genetics|January 6, 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental SyndromesErfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, et al.
Frontiers in Genetics|January 20, 2026
Nanopore sequencing enables combined detection of <i>USP7</i> variants and a known Hao-Fountain syndrome episignatureLiselot van der Laan, Martin A Haagmans, Andrea Venema, et al.
British Journal of Haematology|June 27, 2020
Clinical value of next-generation sequencing compared to cytogenetics in patients with suspected myelodysplastic syndromeEri Kawata, Alejandro Lazo-Langner, Anargyros Xenocostas, et al.
International Journal of Laboratory Hematology|October 29, 2021
Reducing cytogenetic testing in the era of next generation sequencing: Are we choosing wisely?Eri Kawata, Benjamin D Hedley, Benjamin Chin-Yee, et al.
Epilepsia|February 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signatureChristy W LaFlamme, Karim Karimi, Cassandra Rastin, et al.
International Journal of Molecular Sciences|August 27, 2021
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion SyndromeKathleen Rooney, Michael A Levy, Sadegheh Haghshenas, et al.
Clinical Epigenetics|November 26, 2024
Methylation assay in KMT2B-related dystonia: a novel diagnostic validation toolGleyson Francisco da Silva Carvalho, Claudio Melo de Gusmão, Beatriz Martins Wolff, et al.
Frontiers in Cell and Developmental Biology|March 9, 2026
Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndromeLiselot van der Laan, Rob Zwart, Andrea Venema, et al.
Orphanet Journal of Rare Diseases|September 28, 2024
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesClara D M van Karnebeek, Anne O'Donnell-Luria, Gareth Baynam, et al.
Pageof 22

Showing results (111-120 of 218) with videos related to

Sort By:
Pageof 22
Current Oncology (Toronto, Ont.)|April 26, 2024
Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or <i>SF3B1</i> Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart ReviewShamim Mortuza, Benjamin Chin-Yee, Tyler E James, et al.
American Journal of Human Genetics|January 6, 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental SyndromesErfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, et al.
Frontiers in Genetics|January 20, 2026
Nanopore sequencing enables combined detection of <i>USP7</i> variants and a known Hao-Fountain syndrome episignatureLiselot van der Laan, Martin A Haagmans, Andrea Venema, et al.
British Journal of Haematology|June 27, 2020
Clinical value of next-generation sequencing compared to cytogenetics in patients with suspected myelodysplastic syndromeEri Kawata, Alejandro Lazo-Langner, Anargyros Xenocostas, et al.
International Journal of Laboratory Hematology|October 29, 2021
Reducing cytogenetic testing in the era of next generation sequencing: Are we choosing wisely?Eri Kawata, Benjamin D Hedley, Benjamin Chin-Yee, et al.
Epilepsia|February 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signatureChristy W LaFlamme, Karim Karimi, Cassandra Rastin, et al.
International Journal of Molecular Sciences|August 27, 2021
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion SyndromeKathleen Rooney, Michael A Levy, Sadegheh Haghshenas, et al.
Clinical Epigenetics|November 26, 2024
Methylation assay in KMT2B-related dystonia: a novel diagnostic validation toolGleyson Francisco da Silva Carvalho, Claudio Melo de Gusmão, Beatriz Martins Wolff, et al.
Frontiers in Cell and Developmental Biology|March 9, 2026
Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndromeLiselot van der Laan, Rob Zwart, Andrea Venema, et al.
Orphanet Journal of Rare Diseases|September 28, 2024
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesClara D M van Karnebeek, Anne O'Donnell-Luria, Gareth Baynam, et al.
Pageof 22