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Human mutation

Showing results (71-80 of 6,539) with videos related to

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Human Mutation|February 10, 2022
Machine learning models for accurate prioritization of variants of uncertain significanceDaniel Mahecha, Haydemar Nuñez, Maria C Lattig, et al.
Human Mutation|February 10, 2022
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective studyYu Sun, Jing Peng, Desheng Liang, et al.
Human Mutation|February 10, 2022
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcherMeghan C Towne, Mari Rossi, Bess Wayburn, et al.
Human Mutation|February 15, 2022
PhenomeCentral: 7 years of rare disease matchmakingMatthew Osmond, Taila Hartley, Brittney Johnstone, et al.
Human Mutation|April 27, 2022
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratodermaDouglas Ralph, Michael A Levine, Gabriele Richard, et al.
Human Mutation|April 23, 2022
The transmission of human mitochondrial DNA in four-generation pedigreesQi Liu, Muhammad Faaras Iqbal, Tahir Yaqub, et al.
Human Mutation|January 1, 1994
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutationsR G Roberts, R J Gardner, M Bobrow
Human Mutation|January 1, 1994
High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresisF Rousseau, R Réhel, P Rouillard, et al.
Human Mutation|January 1, 1994
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosisA Ferlini, M C Patrosso, M Repetto, et al.
Human Mutation|January 1, 1993
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish populationM Zygulska, A Eigel, J J Pietrzyk, et al.
Pageof 654

Showing results (71-80 of 6,539) with videos related to

Sort By:
Pageof 654
Human Mutation|February 10, 2022
Machine learning models for accurate prioritization of variants of uncertain significanceDaniel Mahecha, Haydemar Nuñez, Maria C Lattig, et al.
Human Mutation|February 10, 2022
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective studyYu Sun, Jing Peng, Desheng Liang, et al.
Human Mutation|February 10, 2022
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcherMeghan C Towne, Mari Rossi, Bess Wayburn, et al.
Human Mutation|February 15, 2022
PhenomeCentral: 7 years of rare disease matchmakingMatthew Osmond, Taila Hartley, Brittney Johnstone, et al.
Human Mutation|April 27, 2022
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratodermaDouglas Ralph, Michael A Levine, Gabriele Richard, et al.
Human Mutation|April 23, 2022
The transmission of human mitochondrial DNA in four-generation pedigreesQi Liu, Muhammad Faaras Iqbal, Tahir Yaqub, et al.
Human Mutation|January 1, 1994
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutationsR G Roberts, R J Gardner, M Bobrow
Human Mutation|January 1, 1994
High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresisF Rousseau, R Réhel, P Rouillard, et al.
Human Mutation|January 1, 1994
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosisA Ferlini, M C Patrosso, M Repetto, et al.
Human Mutation|January 1, 1993
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish populationM Zygulska, A Eigel, J J Pietrzyk, et al.
Pageof 654