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Marcel E Dinger

Showing results (151-160 of 161) with videos related to

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European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Scientific Reports|January 6, 2017
The long non-coding RNA NEAT1 is responsive to neuronal activity and is associated with hyperexcitability statesGuy Barry, James A Briggs, Do Won Hwang, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.
Nature Communications|January 25, 2020
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderlyMark Pinese, Paul Lacaze, Emma M Rath, et al.
American Journal of Human Genetics|August 9, 2020
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic DataSimon Easteal, Ruth M Arkell, Renzo F Balboa, et al.
Nucleic Acids Research|October 31, 2016
RNAcentral: a comprehensive database of non-coding RNA sequences, Anton I Petrov, Simon J E Kay, et al.
Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.
Nature Immunology|September 20, 2019
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunityNathan W Zammit, Owen M Siggs, Paul E Gray, et al.
American Journal of Human Genetics|March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareZornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Pageof 17

Showing results (151-160 of 161) with videos related to

Sort By:
Pageof 17
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Scientific Reports|January 6, 2017
The long non-coding RNA NEAT1 is responsive to neuronal activity and is associated with hyperexcitability statesGuy Barry, James A Briggs, Do Won Hwang, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.
Nature Communications|January 25, 2020
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderlyMark Pinese, Paul Lacaze, Emma M Rath, et al.
American Journal of Human Genetics|August 9, 2020
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic DataSimon Easteal, Ruth M Arkell, Renzo F Balboa, et al.
Nucleic Acids Research|October 31, 2016
RNAcentral: a comprehensive database of non-coding RNA sequences, Anton I Petrov, Simon J E Kay, et al.
Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.
Nature Immunology|September 20, 2019
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunityNathan W Zammit, Owen M Siggs, Paul E Gray, et al.
American Journal of Human Genetics|March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareZornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Pageof 17