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Yang Tan

Showing results (731-740 of 757) with videos related to

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Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
ACS Infectious Diseases|April 6, 2024
Mtb-Selective 5-Aminomethyl Oxazolidinone Prodrugs: Robust Potency and Potential LiabilitiesHelena I M Boshoff, Katherine Young, Yong-Mo Ahn, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsEric Lee, Trang Le, Ying Zhu, et al.
HGG Advances|April 17, 2025
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathiesEmily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Nature Genetics|September 19, 2018
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationM Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
Pageof 76

Showing results (731-740 of 757) with videos related to

Sort By:
Pageof 76
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
ACS Infectious Diseases|April 6, 2024
Mtb-Selective 5-Aminomethyl Oxazolidinone Prodrugs: Robust Potency and Potential LiabilitiesHelena I M Boshoff, Katherine Young, Yong-Mo Ahn, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsEric Lee, Trang Le, Ying Zhu, et al.
HGG Advances|April 17, 2025
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathiesEmily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Nature Genetics|September 19, 2018
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationM Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
Pageof 76