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B Cummings

Showing results (251-260 of 287) with videos related to

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Nature|February 4, 2021
Author Correction: Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
Molecular Genetics and Metabolism|December 19, 2018
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a childRocio Rius, Lisa G Riley, Yiran Guo, et al.
Science (New York, N.Y.)|October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare diseasePejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Photodermatology, Photoimmunology & Photomedicine|June 1, 1996
Enzyme therapy of xeroderma pigmentosum: safety and efficacy testing of T4N5 liposome lotion containing a prokaryotic DNA repair enzymeD Yarosh, J Klein, J Kibitel, et al.
Journal of Cataract and Refractive Surgery|March 3, 2023
Decision taking in corneal refractive surgeryRudy M M A Nuijts, Arthur B Cummings, H Burkhard Dick, et al.
Nature|May 29, 2020
Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Nature|February 4, 2021
Author Correction: Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Transboundary and Emerging Diseases|May 15, 2026
Detection and Genomic Characterization of Novel Respiratory Viruses in US and Mexican Cattle FarmsJudith U Oguzie, Daniel B Cummings, John T Groves, et al.
Nature|October 13, 2017
Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Pageof 29

Showing results (251-260 of 287) with videos related to

Sort By:
Pageof 29
Nature|February 4, 2021
Author Correction: Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
Molecular Genetics and Metabolism|December 19, 2018
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a childRocio Rius, Lisa G Riley, Yiran Guo, et al.
Science (New York, N.Y.)|October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare diseasePejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Photodermatology, Photoimmunology & Photomedicine|June 1, 1996
Enzyme therapy of xeroderma pigmentosum: safety and efficacy testing of T4N5 liposome lotion containing a prokaryotic DNA repair enzymeD Yarosh, J Klein, J Kibitel, et al.
Journal of Cataract and Refractive Surgery|March 3, 2023
Decision taking in corneal refractive surgeryRudy M M A Nuijts, Arthur B Cummings, H Burkhard Dick, et al.
Nature|May 29, 2020
Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Nature|February 4, 2021
Author Correction: Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Transboundary and Emerging Diseases|May 15, 2026
Detection and Genomic Characterization of Novel Respiratory Viruses in US and Mexican Cattle FarmsJudith U Oguzie, Daniel B Cummings, John T Groves, et al.
Nature|October 13, 2017
Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Pageof 29