Bilaketaren emaitzak - Raymond Dalgleish

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  1. 1
    Idiopathic acquired lacrimal drainage obstruction.

    Idiopathic acquired lacrimal drainage obstruction. nork Raymond Dalgleish

    Argitaratua 1967
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  2. 2
    The human type I collagen mutation database

    The human type I collagen mutation database nork Raymond Dalgleish

    Argitaratua 1997
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  3. 3
    Mechanics and histology of senile entropion.

    Mechanics and histology of senile entropion. nork Raymond Dalgleish, Judith Lee Smith

    Argitaratua 1966
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  4. 4
    Guidelines for establishing locus specific databases

    Guidelines for establishing locus specific databases nork Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish, Richard G.H. Cotton

    Argitaratua 2011
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  5. 5
    VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

    VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions nork Peter Freeman, Reece K. Hart, Liam J Gretton, Anthony J. Brookes, Raymond Dalgleish

    Argitaratua 2017
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  6. 6
    EMQN best practice guidelines for genetic testing in dystrophinopathies

    EMQN best practice guidelines for genetic testing in dystrophinopathies nork Carl Fratter, Raymond Dalgleish, Stephanie Allen, Rosário Santos, Stephen Abbs, Sylvie Tuffery‐Giraud, Alessandra Ferlini

    Argitaratua 2020
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  7. 7
    Dissecting the phenotypic variability of osteogenesis imperfecta

    Dissecting the phenotypic variability of osteogenesis imperfecta nork Nadia Garibaldi, Roberta Besio, Raymond Dalgleish, Simona Villani, Aileen M. Barnes, Joan C. Marini, Antonella Forlino

    Argitaratua 2022
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  8. 8
    Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family.

    Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family. nork E. Solomon, Lynne R. Hiorns, N.K. Spurr, Markku Kurkinen, Denise P. Barlow, Brigid L.M. Hogan, Raymond Dalgleish

    Argitaratua 1985
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  9. 9
    Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure

    Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure nork Yingying Qin, Xue Jiao, Raymond Dalgleish, Svetlana Vujović, Jin Li, Joe Leigh Simpson, Farook Al‐Azzawi, Zi‐Jiang Chen

    Argitaratua 2014
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  10. 10
    EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

    EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta nork Fleur S van Dijk, Peter H. Byers, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik A. Sistermans, Gerard Pals

    Argitaratua 2011
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  11. 11
    Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

    Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants nork Jacqueline MacArthur, Joannella Morales, Ray Tully, Alex Astashyn, Laurent Gil, Elspeth A. Bruford, Pontus Larsson, Paul Flicek, Raymond Dalgleish, Donna Maglott, Fiona Cunningham

    Argitaratua 2013
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  12. 12
    HGVS Recommendations for the Description of Sequence Variants: 2016 Update

    HGVS Recommendations for the Description of Sequence Variants: 2016 Update nork Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott, Reece K. Hart, Marc S. Greenblatt, Jean McGowan‐Jordan, Anne‐Françoise Roux, Tim D. Smith, Stylianos E. Antonarakis, Peter E.M. Taschner

    Argitaratua 2016
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  13. 13
    Locus Reference Genomic sequences: an improved basis for describing human DNA variants

    Locus Reference Genomic sequences: an improved basis for describing human DNA variants nork Raymond Dalgleish, Paul Flicek, Fiona Cunningham, Alex Astashyn, Raymond E. Tully, Glenn Proctor, Yuan Chen, William McLaren, Pontus Larsson, Brendan Vaughan, Christophe Béroud, Glen Dobson, Heikki Lehväslaiho, Peter E.M. Taschner, Johan T. den Dunnen, A. Devereau, Ewan Birney, Anthony J. Brookes, Donna Maglott

    Argitaratua 2010
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  14. 14
    HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions

    HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions nork Elspeth A. Bruford, Cristina R. Antonescu, Andrew J. Carroll, Arul M. Chinnaiyan, Ian A. Cree, Nicholas C.P. Cross, Raymond Dalgleish, Robert Peter Gale, Christine J. Harrison, Rosalind J. Hastings, Jean‐Loup Huret, Bertil Johansson, Michelle Le Beau, Cristina Mecucci, Fredrik Mertens, Roel G.W. Verhaak, Felix Mitelman

    Argitaratua 2021
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  15. 15
    Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

    Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and prot... nork Joan C. Marini, Antonella Forlino, Wayne A. Cabral, Aileen M. Barnes, James D. San Antonio, Sarah A. Milgrom, James Hyland, Jarmo Körkkö, Darwin J. Prockop, Anne De Paepe, Paul Coucke, Sofie Symoens, Francis H. Glorieux, Peter J. Roughley, Allan M. Lund, Kaija Kuurila-Svahn, Heini Hartikka, Daniel H. Cohn, Deborah Krakow, Monica Mottes, Ulrike Schwarze, Diana Chen, Kathleen Yang, Christine Kuslich, James Troendle, Raymond Dalgleish, Peter H. Byers

    Argitaratua 2006
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  16. 16
    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery nork Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh Carmody, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica Muñoz‐Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    Argitaratua 2024
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  17. 17
    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery nork Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh Carmody, Leonardo Chimirri, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica C. Munoz-Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    Argitaratua 2024
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  18. 18
    Planning the Human Variome Project: The Spain report

    Planning the Human Variome Project: The Spain report nork Jim Kaput, Richard G.H. Cotton, L Hardman, Michael S. Watson, Aida I. Al Aqeel, Jumana Y. Al‐Aama, Fahd Al‐Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge Bernstein, Jong Bhak, Stacey Bléoo, Helmut Blöcker, Steven E. Brenner, John Burn, Mariona Bustamante, Rita Calzone, Anne Cambon‐Thomsen, Michele Cargill, Paola Carrera, Lawrence Cavedon, Yoon Shin Cho, Yeun‐Jun Chung, Mireille Claustres, Garry R. Cutting, Raymond Dalgleish, Johan T. den Dunnen, Carlos Bustamante, Steven F. Dobrowolski, Rosário Santos, Rosemary Ekong, Simon B. Flanagan, Paul Flicek, Yoichi Furukawa, Maurizio Genuardi, Ho Ghang, М. В. Голубенко, Marc S. Greenblatt, Ada Hamosh, John M. Hancock, Ross C. Hardison, Terence Harrison, Robert Hoffmann, Rania Horaitis, Heather J. Howard, Carol Isaacson Barash, Neskuts Izagirre, Jongsun Jung, Toshio Kojima, Sandrine Laradi, Yeon-Su Lee, Jong‐Young Lee, Vera Lúcia Gil‐da‐Silva‐Lopes, Finlay Macrae, Donna Maglott, Makia J. Marafie, Steven G. E. Marsh, Yoichi Matsubara, Ludwine M. Messiaen, Gabriela Möslein, Mihai G. Netea, Melissa Norton, Peter J. Oefner, William S. Oetting, James O’Leary, Ana María Oller Ramírez, Mark H. Paalman, Jillian S. Parboosingh, George P. Patrinos, Giuditta Perozzi, Ian Phillips, Sue Povey, S Prasad, Ming Qi, David J. Quin, Raj Ramesar, C. Sue Richards, Judy Savige, D. Scheible, Rodney J. Scott, Daniela Seminara, Elizabeth A. Shephard, Rolf H. Sijmons, Tim D. Smith, María-Jesús Sobrido, Toshihiro Tanaka, Sean V. Tavtigian, Graham R. Taylor, Jon W. Teague, Thoralf Töpel, Mollie Ullman-Culleré, Joji Utsunomiya, Henk J. van Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K. Weber, Meredith Yeager, Young Il Yeom

    Argitaratua 2009
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