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Heidi L Rehm

Showing results (141-150 of 342) with videos related to

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Biorxiv : the Preprint Server for Biology|June 25, 2024
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation DatabaseSanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
American Journal of Medical Genetics. Part A|July 23, 2013
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populationsEmily Gallant, Lauren Francey, Ellen A Tsai, et al.
American Journal of Human Genetics|February 12, 2011
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathyDaniel M Jordan, Adam Kiezun, Samantha M Baxter, et al.
Medrxiv : the Preprint Server for Health Sciences|February 17, 2023
A Pooled Electronic Consultation Program to Improve Access to Genetics SpecialistsEmma K Folkerts, Renée C Pelletier, Daniel C Chung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2017
A curated gene list for reporting results of newborn genomic sequencingOzge Ceyhan-Birsoy, Kalotina Machini, Matthew S Lebo, et al.
The Journal of Molecular Diagnostics : JMD|May 10, 2016
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney DiseaseBrendan Blumenstiel, Matthew DeFelice, Ozge Birsoy, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2024
Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrityMaria C Foss-Freitas, Donatella Gilio, Andre Monteiro da Rocha, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
Improved Allele Frequencies in gnomAD through Local Ancestry InferencePragati Kore, Michael W Wilson, Grace Tiao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2003
Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical GeneticsRaye L Alford, Thomas B Friedman, Bronya J B Keats, et al.
Pageof 35

Showing results (141-150 of 342) with videos related to

Sort By:
Pageof 35
Biorxiv : the Preprint Server for Biology|June 25, 2024
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation DatabaseSanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
American Journal of Medical Genetics. Part A|July 23, 2013
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populationsEmily Gallant, Lauren Francey, Ellen A Tsai, et al.
American Journal of Human Genetics|February 12, 2011
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathyDaniel M Jordan, Adam Kiezun, Samantha M Baxter, et al.
Medrxiv : the Preprint Server for Health Sciences|February 17, 2023
A Pooled Electronic Consultation Program to Improve Access to Genetics SpecialistsEmma K Folkerts, Renée C Pelletier, Daniel C Chung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2017
A curated gene list for reporting results of newborn genomic sequencingOzge Ceyhan-Birsoy, Kalotina Machini, Matthew S Lebo, et al.
The Journal of Molecular Diagnostics : JMD|May 10, 2016
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney DiseaseBrendan Blumenstiel, Matthew DeFelice, Ozge Birsoy, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2024
Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrityMaria C Foss-Freitas, Donatella Gilio, Andre Monteiro da Rocha, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
Improved Allele Frequencies in gnomAD through Local Ancestry InferencePragati Kore, Michael W Wilson, Grace Tiao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2003
Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical GeneticsRaye L Alford, Thomas B Friedman, Bronya J B Keats, et al.
Pageof 35