Hasil Pencarian - David R Fitzpatrick

Perbaiki Hasil
  1. 1
    High-Efficiency T-Vector Cloning of PCR Products by Forced A Tagging and Post-Ligation Restriction Enzyme Digestion

    High-Efficiency T-Vector Cloning of PCR Products by Forced A Tagging and Post-Ligation Restriction Enzyme Digestion oleh Helle Bielefeldt-Ohmann, David R. Fitzpatrick

    Diterbitkan 1997-11-01
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  2. 2
    Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

    Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study oleh Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth

    Diterbitkan 2023-01-01
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  3. 3
    Diagnostically relevant facial gestalt information from ordinary photos

    Diagnostically relevant facial gestalt information from ordinary photos oleh Quentin Ferry, Julia Steinberg, Caleb Webber, David R FitzPatrick, Chris P Ponting, Andrew Zisserman, Christoffer Nellåker

    Diterbitkan 2014-06-01
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  4. 4
    IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

    IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders oleh Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple

    Diterbitkan 2023-01-01
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  5. 5
    Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.

    Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations. oleh Louise Harewood, Monica Liu, Jean Keeling, Alan Howatson, Margo Whiteford, Peter Branney, Margaret Evans, Judy Fantes, David R Fitzpatrick

    Diterbitkan 2010-08-01
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  6. 6
    Returning genome sequences to research participants: Policy and practice [version 1; referees: 2 approved]

    Returning genome sequences to research participants: Policy and practice [version 1; referees: 2 approved] oleh Caroline F. Wright, Anna Middleton, Jeffrey C. Barrett, Helen V. Firth, David R. FitzPatrick, Matthew E. Hurles, Michael Parker

    Diterbitkan 2017-02-01
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  7. 7
    Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

    Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation oleh Mark T. Handley, Sarah M. Carpanini, Girish R. Mali, Duska J. Sidjanin, Irene A. Aligianis, Ian J. Jackson, David R. FitzPatrick

    Diterbitkan 2015-01-01
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  8. 8
    Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

    Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect oleh Gabrielle Olley, Madapura M. Pradeepa, Graeme R. Grimes, Sandra Piquet, Sophie E. Polo, David R. FitzPatrick, Wendy A. Bickmore, Charlene Boumendil

    Diterbitkan 2021-05-01
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  9. 9
    Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants

    Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants oleh Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla

    Diterbitkan 2024-06-01
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  10. 10
    Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina

    Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina oleh Birthe Dorgau, Joseph Collin, Agata Rozanska, Darin Zerti, Adrienne Unsworth, Moira Crosier, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Aara Patel, Jane C. Sowden, David R. FitzPatrick, Rachel Queen, Majlinda Lako

    Diterbitkan 2024-04-01
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  11. 11
    A trans-acting protein effect causes severe eye malformation in the Mp mouse.

    A trans-acting protein effect causes severe eye malformation in the Mp mouse. oleh Joe Rainger, Margaret Keighren, Douglas R Keene, Noe L Charbonneau, Jacqueline K Rainger, Malcolm Fisher, Sebastien Mella, Jeffrey T-J Huang, Lorraine Rose, Rob van't Hof, Lynne Y Sakai, Ian J Jackson, David R Fitzpatrick

    Diterbitkan 2013-01-01
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  12. 12
    FRA2A is a CGG repeat expansion associated with silencing of AFF3.

    FRA2A is a CGG repeat expansion associated with silencing of AFF3. oleh Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R Fitzpatrick, R Frank Kooy

    Diterbitkan 2014-04-01
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  13. 13
    Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

    Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP oleh Anja Thormann, Mihail Halachev, William McLaren, David J. Moore, Victoria Svinti, Archie Campbell, Shona M. Kerr, Marc Tischkowitz, Sarah E. Hunt, Malcolm G. Dunlop, Matthew E. Hurles, Caroline F. Wright, Helen V. Firth, Fiona Cunningham, David R. FitzPatrick

    Diterbitkan 2019-05-01
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  14. 14
    Contribution of retrotransposition to developmental disorders

    Contribution of retrotransposition to developmental disorders oleh Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick J. Short, Alejandro Sifrim, Tarjinder Singh, Kate E. Chandler, Emma Clement, Katherine L. Lachlan, Katrina Prescott, Elisabeth Rosser, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles

    Diterbitkan 2019-10-01
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  15. 15
    ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

    ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. oleh Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert W Taylor, Andrew J Finch, David R FitzPatrick

    Diterbitkan 2019-03-01
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  16. 16
    Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

    Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. oleh Alexandre R Vieira, Joseph R Avila, Sandra Daack-Hirsch, Ecaterina Dragan, Têmis M Félix, Fedik Rahimov, Jill Harrington, Rebecca R Schultz, Yoriko Watanabe, Marla Johnson, Jennifer Fang, Sarah E O'Brien, Iêda M Orioli, Eduardo E Castilla, David R Fitzpatrick, Rulang Jiang, Mary L Marazita, Jeffrey C Murray

    Diterbitkan 2005-12-01
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  17. 17
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders oleh Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles

    Diterbitkan 2021-01-01
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  18. 18
    Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

    Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. oleh Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick

    Diterbitkan 2021-01-01
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  19. 19
    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. oleh Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick

    Diterbitkan 2022-01-01
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  20. 20
    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia oleh Hildegard Nikki Hall, Hemant Bengani, Robert B. Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A. Marsh, Graeme R. Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M. Mannens, Veronica Van Heyningen, Joe Rainger, Brian P. Brooks, David R. FitzPatrick

    Diterbitkan 2022-01-01
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