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Human mutation

Showing results (181-190 of 6,540) with videos related to

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Human Mutation|January 1, 1992
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosisM R Almeida, A Ferlini, A Forabosco, et al.
Human Mutation|January 1, 1992
Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutionsS A Jordan, G J Farrar, P Kenna, et al.
Human Mutation|January 11, 1992
Rapid preparation of genomic DNA from dried blood and saliva spots for polymerase chain reactionY A Berlin, H H Kazazian
Human Mutation|January 1, 1992
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophyJ K Park, J J O'Donnell, V E Shih, et al.
Human Mutation|January 1, 1992
Illegitimate transcription: its use in the study of inherited diseaseJ C Kaplan, A Kahn, J Chelly
Human Mutation|January 1, 1992
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation diseaseE Ikonen, L Peltonen
Human Mutation|January 1, 1992
CRIM-positive mutations of acute intermittent porphyria in FinlandR Kauppinen, L Peltonen, H Pihlaja, et al.
Human Mutation|January 1, 1992
Gene duplication in evolutionR C Baumiller
Human Mutation|January 1, 1992
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresisS Jonsdottir, C Diamond, B Levinson, et al.
Human Mutation|November 5, 2019
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challengeLipika R Pal, Kunal Kundu, Yizhou Yin, et al.
Pageof 654

Showing results (181-190 of 6,540) with videos related to

Sort By:
Pageof 654
Human Mutation|January 1, 1992
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosisM R Almeida, A Ferlini, A Forabosco, et al.
Human Mutation|January 1, 1992
Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutionsS A Jordan, G J Farrar, P Kenna, et al.
Human Mutation|January 11, 1992
Rapid preparation of genomic DNA from dried blood and saliva spots for polymerase chain reactionY A Berlin, H H Kazazian
Human Mutation|January 1, 1992
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophyJ K Park, J J O'Donnell, V E Shih, et al.
Human Mutation|January 1, 1992
Illegitimate transcription: its use in the study of inherited diseaseJ C Kaplan, A Kahn, J Chelly
Human Mutation|January 1, 1992
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation diseaseE Ikonen, L Peltonen
Human Mutation|January 1, 1992
CRIM-positive mutations of acute intermittent porphyria in FinlandR Kauppinen, L Peltonen, H Pihlaja, et al.
Human Mutation|January 1, 1992
Gene duplication in evolutionR C Baumiller
Human Mutation|January 1, 1992
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresisS Jonsdottir, C Diamond, B Levinson, et al.
Human Mutation|November 5, 2019
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challengeLipika R Pal, Kunal Kundu, Yizhou Yin, et al.
Pageof 654