Hasil Pencarian - Isabelle Thiffault

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  1. 1
    Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report

    Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report oleh Alexandra Chapleau, Alexandra Chapleau, Renée-Myriam Boucher, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Peter V. Gould, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard

    Diterbitkan 2023-08-01
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  2. 2
    P629: A novel 198 kb partial duplication in KMT2C: Report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma

    P629: A novel 198 kb partial duplication in KMT2C: Report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma oleh Rishabh Gaur, John Herriges, Isabelle Thiffault, Julie Joyce, Eric Rush, Elena Repnikova

    Diterbitkan 2024-01-01
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  3. 3
    P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing*

    P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing* oleh Xiao Chen, Egor Dolzhenko, Emily Farrow, Isabelle Thiffault, Alexander Hoischen, Tomi Pastinen, Michael Eberle

    Diterbitkan 2024-01-01
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  4. 4
    P301: Pathogenic NOTCH1 variation displays a spectrum of cardiac and extra-cardiac anomalies

    P301: Pathogenic NOTCH1 variation displays a spectrum of cardiac and extra-cardiac anomalies oleh Joseph Alaimo, Florencia Del Viso, Ana S.A. Cohen, Emily Farrow, Carol Saunders, Isabelle Thiffault

    Diterbitkan 2024-01-01
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  5. 5
    P225: Efficacy of NGS testing for pediatric endocrine related disease

    P225: Efficacy of NGS testing for pediatric endocrine related disease oleh Joseph Alaimo, Florencia Del Viso, Vitoria Paolillo, Ana S.A. Cohen, Isabelle Thiffault, Carol Saunders

    Diterbitkan 2024-01-01
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  6. 6
    Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

    Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report oleh Julia Macintosh, Julia Macintosh, Stefanie Perrier, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Luan T. Tran, Kether Guerrero, Kether Guerrero, Chitra Prasad, Chitra Prasad, Chitra Prasad, Asuri N. Prasad, Asuri N. Prasad, Tomi Pastinen, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Benoit Coulombe, Benoit Coulombe, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard

    Diterbitkan 2023-10-01
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  7. 7
    Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

    Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing oleh Stefanie Perrier, Stefanie Perrier, Kether Guerrero, Kether Guerrero, Luan T. Tran, Luan T. Tran, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Legault, Geneviève Legault, Geneviève Legault, Bernard Brais, Bernard Brais, Bernard Brais, Michel Sylvain, James Dorman, James Dorman, Michelle Demos, Wolfgang Köhler, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard

    Diterbitkan 2023-04-01
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  8. 8
    Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

    Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature oleh Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard

    Diterbitkan 2023-07-01
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  9. 9
    P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes*

    P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes* oleh Emily Farrow, Isabelle Thiffault, Ana Cohen, Tricia Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren Cheung, Jeffrey Johnston, Tomi Pastinen

    Diterbitkan 2023-01-01
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  10. 10
    O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing?

    O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing? oleh Carol Saunders, Joseph Alaimo, Florencia Del Viso, Victoria Paolillo, Ana S.A. Cohen, John Herriges, Greg Marsh, Isabelle Thiffault, Emily Farrow

    Diterbitkan 2024-01-01
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  11. 11
    Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

    Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease oleh Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders

    Diterbitkan 2017-11-01
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  12. 12
    P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations

    P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations oleh Ana S.A. Cohen, Cassandra Barrett, Tricia Zion, Riley Moore, Emelia Boillat, Bradley Belden, Emily Farrow, Isabelle Thiffault, Courtney Berrios, Britton Zuccarelli, Tomi Pastinen

    Diterbitkan 2024-01-01
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  13. 13
    Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

    Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report oleh Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault

    Diterbitkan 2018-03-01
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  14. 14
    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center

    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center oleh Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders, Isabelle Thiffault

    Diterbitkan 2023-01-01
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  15. 15
    Pangenome graphs improve the analysis of structural variants in rare genetic diseases

    Pangenome graphs improve the analysis of structural variants in rare genetic diseases oleh Cristian Groza, Carl Schwendinger-Schreck, Warren A. Cheung, Emily G. Farrow, Isabelle Thiffault, Juniper Lake, William B. Rizzo, Gilad Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen

    Diterbitkan 2024-01-01
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  16. 16
    Diagnostics of Primary Immunodeficiencies through Next Generation Sequencing

    Diagnostics of Primary Immunodeficiencies through Next Generation Sequencing oleh Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata

    Diterbitkan 2016-11-01
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  17. 17
    Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

    Complex trait associations in rare diseases and impacts on Mendelian variant interpretation oleh Craig Smail, Bing Ge, Marissa R. Keever-Keigher, Carl Schwendinger-Schreck, Warren A. Cheung, Jeffrey J. Johnston, Cassandra Barrett, Genomic Answers for Kids Consortium, Keith Feldman, Ana S. A. Cohen, Emily G. Farrow, Isabelle Thiffault, Elin Grundberg, Tomi Pastinen

    Diterbitkan 2024-09-01
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  18. 18
    O24: Unveiling the power of HiFi genome sequencing: One test to rule them all?

    O24: Unveiling the power of HiFi genome sequencing: One test to rule them all? oleh Emily Farrow, Carol Saunders, Margaret Gibson, Adam Walter, Ana S.A. Cohen, Joseph Alaimo, Tricia Zion, Charlie Bi, YuXin Zhou, Guil Bourque, Adam Johnson, Byunggil Yoo, Carl Schwendinger-Schreck, Jeff Johnston, Warren Cheung, Tomi Pastinen, Isabelle Thiffault

    Diterbitkan 2024-01-01
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  19. 19
    Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.

    Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. oleh Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie-Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean-Pierre Bouchard, Marie-France Rioux, Charles M Lourenco, Zhihong Li, Claire Haueter, Eric A Shoubridge, Brett H Graham, Bernard Brais, Hugo J Bellen

    Diterbitkan 2012-01-01
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  20. 20
    Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

    Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling oleh Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci

    Diterbitkan 2020-11-01
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