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Machol

Showing results (31-40 of 56) with videos related to

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Molecular Genetics and Metabolism|January 9, 2025
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromesCharles R DiFalco, Charul Gijavanekar, Yue Wang, et al.
Human Molecular Genetics|November 5, 2021
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndromeKeren Machol, Urszula Polak, Monika Weisz-Hubshman, et al.
Science (New York, N.Y.)|March 25, 2017
De novo assembly of the <i>Aedes aegypti</i> genome using Hi-C yields chromosome-length scaffoldsOlga Dudchenko, Sanjit S Batra, Arina D Omer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2023
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratoryLinyan Meng, Ruben Attali, Tomer Talmy, et al.
Applied Optics|January 20, 2009
Scanning tropospheric ozone and aerosol lidar with double-gated photomultipliersJanet L Machol, Richard D Marchbanks, Christoph J Senff, et al.
Cell|December 16, 2014
A 3D map of the human genome at kilobase resolution reveals principles of chromatin loopingSuhas S P Rao, Miriam H Huntley, Neva C Durand, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2-Related Mitochondrial DisorderVittoria Rossi, Dan Brooks, Hongzheng Dai, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 20, 2016
Deletion of DXZ4 on the human inactive X chromosome alters higher-order genome architectureEmily M Darrow, Miriam H Huntley, Olga Dudchenko, et al.
American Journal of Medical Genetics. Part A|November 27, 2016
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathiesKeren Machol, Mahim Jain, Mohammed Almannai, et al.
Ebiomedicine|December 28, 2023
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalitiesNiu Li, Yufei Xu, Hongzhu Chen, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
Molecular Genetics and Metabolism|January 9, 2025
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromesCharles R DiFalco, Charul Gijavanekar, Yue Wang, et al.
Human Molecular Genetics|November 5, 2021
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndromeKeren Machol, Urszula Polak, Monika Weisz-Hubshman, et al.
Science (New York, N.Y.)|March 25, 2017
De novo assembly of the <i>Aedes aegypti</i> genome using Hi-C yields chromosome-length scaffoldsOlga Dudchenko, Sanjit S Batra, Arina D Omer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2023
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratoryLinyan Meng, Ruben Attali, Tomer Talmy, et al.
Applied Optics|January 20, 2009
Scanning tropospheric ozone and aerosol lidar with double-gated photomultipliersJanet L Machol, Richard D Marchbanks, Christoph J Senff, et al.
Cell|December 16, 2014
A 3D map of the human genome at kilobase resolution reveals principles of chromatin loopingSuhas S P Rao, Miriam H Huntley, Neva C Durand, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2-Related Mitochondrial DisorderVittoria Rossi, Dan Brooks, Hongzheng Dai, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 20, 2016
Deletion of DXZ4 on the human inactive X chromosome alters higher-order genome architectureEmily M Darrow, Miriam H Huntley, Olga Dudchenko, et al.
American Journal of Medical Genetics. Part A|November 27, 2016
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathiesKeren Machol, Mahim Jain, Mohammed Almannai, et al.
Ebiomedicine|December 28, 2023
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalitiesNiu Li, Yufei Xu, Hongzhu Chen, et al.
Pageof 6