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Human mutation

Showing results (271-280 of 6,541) with videos related to

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Human Mutation|August 6, 2016
Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene ExpressionN Scott Reading, Claire Shooter, Jihyun Song, et al.
Human Mutation|June 20, 2015
15q Maternal Duplication and Neurodevelopmental Disorders; UBE3A is the KeyAnthony R Isles
Human Mutation|July 20, 2016
Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic PancreatitisArnaud Boulling, Amandine Abrantes, Emmanuelle Masson, et al.
Human Mutation|August 28, 2025
Key Genes Associated With Functional Specialization of Neonatal Peripheral MonocytesTingyan Xie, Zicheng Huang, Xian Chen, et al.
Human Mutation|May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.
Human Mutation|May 18, 2021
Extending the allelic spectrum at noncoding risk loci of orofacial cleftingFrederic Thieme, Leonie Henschel, Nigel L Hammond, et al.
Human Mutation|August 3, 2022
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approachMads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
Human Mutation|June 6, 2015
Somatic Mutations in Catalytic Core of POLK Reported in Prostate Cancer Alter Translesion DNA SynthesisSantosh Yadav, Sudurkia Mukhopadhyay, Muralidharan Anbalagan, et al.
Pageof 655

Showing results (271-280 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|August 6, 2016
Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene ExpressionN Scott Reading, Claire Shooter, Jihyun Song, et al.
Human Mutation|June 20, 2015
15q Maternal Duplication and Neurodevelopmental Disorders; UBE3A is the KeyAnthony R Isles
Human Mutation|July 20, 2016
Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic PancreatitisArnaud Boulling, Amandine Abrantes, Emmanuelle Masson, et al.
Human Mutation|August 28, 2025
Key Genes Associated With Functional Specialization of Neonatal Peripheral MonocytesTingyan Xie, Zicheng Huang, Xian Chen, et al.
Human Mutation|May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.
Human Mutation|May 18, 2021
Extending the allelic spectrum at noncoding risk loci of orofacial cleftingFrederic Thieme, Leonie Henschel, Nigel L Hammond, et al.
Human Mutation|August 3, 2022
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approachMads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
Human Mutation|June 6, 2015
Somatic Mutations in Catalytic Core of POLK Reported in Prostate Cancer Alter Translesion DNA SynthesisSantosh Yadav, Sudurkia Mukhopadhyay, Muralidharan Anbalagan, et al.
Pageof 655