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There are 31803 results for: content related to: LOVD v.2.0: the next generation in gene variant databases

  1. The Finnish Disease Heritage Database (FinDis) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1458–1466, Anne Polvi, Henna Linturi, Teppo Varilo, Anna-Kaisa Anttonen, Myles Byrne, Ivo F.A.C. Fokkema, Henrikki Almusa, Anthony Metzidis, Kristiina Avela, Pertti Aula, Marjo Kestilä and Juha Muilu

    Version of Record online : 13 SEP 2013, DOI: 10.1002/humu.22389

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    Penicillin-binding protein SpoVD disulphide is a target for StoA in Bacillus subtilis forespores

    Molecular Microbiology

    Volume 75, Issue 1, January 2010, Pages: 46–60, Yiming Liu, Mirja Carlsson Möller, Lise Petersen, Christopher A. G. Söderberg and Lars Hederstedt

    Version of Record online : 17 NOV 2009, DOI: 10.1111/j.1365-2958.2009.06964.x

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    Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 424–435, Marianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David Kwiatkowski, Julian Sampson, Concha Vidales, Jacinta Dzarir, Javier Garcia-Planells, Kira Dies, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley and Mark Nellist

    Version of Record online : 8 MAR 2011, DOI: 10.1002/humu.21451

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    Clinical considerations for increasing occlusal vertical dimension: a review

    Australian Dental Journal

    Volume 57, Issue 1, March 2012, Pages: 2–10, J Abduo and K Lyons

    Version of Record online : 28 FEB 2012, DOI: 10.1111/j.1834-7819.2011.01640.x

  5. Does altering the occlusal vertical dimension produce temporomandibular disorders? A literature review

    Journal of Oral Rehabilitation

    Volume 42, Issue 11, November 2015, Pages: 875–882, I. Moreno-Hay and J. P. Okeson

    Version of Record online : 3 JUL 2015, DOI: 10.1111/joor.12326

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    Toward a mtDNA locus-specific mutation database using the LOVD platform

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1352–1358, Joanna L. Elson, Mary G. Sweeney, Vincent Procaccio, John W. Yarham, Antonio Salas, Qing-Peng Kong, Francois H. van der Westhuizen, Robert D.S. Pitceathly, David R. Thorburn, Marie T. Lott, Douglas C. Wallace, Robert W. Taylor and Robert McFarland

    Version of Record online : 2 JUL 2012, DOI: 10.1002/humu.22118

  7. Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome

    Human Mutation

    Volume 31, Issue 11, November 2010, Pages: 1216–1222, Jorge Oliveira, Cristina Dias, Egbert Redeker, Eurico Costa, João Silva, Margarida Reis Lima, Johan T. den Dunnen and Rosário Santos

    Version of Record online : 28 OCT 2010, DOI: 10.1002/humu.21352

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    Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 147–148, Frans P.M. Cremers, Johan T. den Dunnen, Muhammad Ajmal, Alamdar Hussain, Markus N. Preising, Stephen P. Daiger and Raheel Qamar

    Version of Record online : 13 NOV 2013, DOI: 10.1002/humu.22458

  9. A new quaternary photoluminescence enhancement system of Eu−N-(o-vanillin)-1,8-diaminonaphthalene−1,10-phenanthroline−Zn and its application in determining trace amounts of europium and zinc

    Luminescence

    Volume 29, Issue 5, August 2014, Pages: 531–539, Yunshan Zhou, Waqar Ahmad, Yugang An, Lijuan Zhang and Xiaorui Zheng

    Version of Record online : 30 SEP 2013, DOI: 10.1002/bio.2582

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    Leiden open variation database of the MUTYH gene

    Human Mutation

    Volume 31, Issue 11, November 2010, Pages: 1205–1215, Astrid A. Out, Carli M.J. Tops, Maartje Nielsen, Marjan M. Weiss, Ivonne J.H.M. van Minderhout, Ivo F.A.C. Fokkema, Marie-Pierre Buisine, Kathleen Claes, Chrystelle Colas, Riccardo Fodde, Florentia Fostira, Patrick F. Franken, Mette Gaustadnes, Karl Heinimann, Shirley V. Hodgson, Frans B.L. Hogervorst, Elke Holinski-Feder, Kristina Lagerstedt-Robinson, Sylviane Olschwang, van den Ouweland Ans M.W., Egbert J.W. Redeker, Rodney J. Scott, Bruno Vankeirsbilck, Rikke Veggerby Grønlund, Juul T. Wijnen, Friedrik P. Wikman, Stefan Aretz, Julian R. Sampson, Peter Devilee, Johan T. den Dunnen and Frederik J. Hes

    Version of Record online : 28 OCT 2010, DOI: 10.1002/humu.21343

  11. Full-Mouth Rehabilitation of a Patient with Severe Deep Bite: A Clinical Report

    Journal of Prosthodontics

    Volume 23, Issue 5, July 2014, Pages: 406–411, Gulfem Ergun and Ayse Seda Yucel

    Version of Record online : 6 JAN 2014, DOI: 10.1111/jopr.12113

  12. VariOtator, a Software Tool for Variation Annotation with the Variation Ontology

    Human Mutation

    Volume 37, Issue 4, April 2016, Pages: 344–349, Gerard C. P. Schaafsma and Mauno Vihinen

    Version of Record online : 4 FEB 2016, DOI: 10.1002/humu.22954

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    Human Variome Project Quality Assessment Criteria for Variation Databases

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 549–558, Mauno Vihinen, John M. Hancock, Donna R. Maglott, Melissa J. Landrum, Gerard C. P. Schaafsma and Peter Taschner

    Version of Record online : 21 MAR 2016, DOI: 10.1002/humu.22976

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    Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 22–28, Maxime P. Vallée, Tiana C. Francy, Megan K. Judkins, Davit Babikyan, Fabienne Lesueur, Amanda Gammon, David E. Goldgar, Fergus J. Couch and Sean V. Tavtigian

    Version of Record online : 3 NOV 2011, DOI: 10.1002/humu.21629

  15. Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1335–1340, Min Pan, Peikuan Cong, Yue Wang, Changsong Lin, Ying Yuan, Jian Dong, Santasree Banerjee, Tao Zhang, Yanling Chen, Ting Zhang, Mingqing Chen, Peter Hu, Shu Zheng, Jin Zhang and Ming Qi

    Version of Record online : 20 OCT 2011, DOI: 10.1002/humu.21588

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    The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1324–1332, Joshua Hersheson, Andrea Haworth and Henry Houlden

    Version of Record online : 2 JUL 2012, DOI: 10.1002/humu.22132

  17. You have full text access to this OnlineOpen article
    Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations

    Molecular Genetics & Genomic Medicine

    Volume 4, Issue 2, March 2016, Pages: 223–231, Wenche Sjursen, Mary McPhillips, Rodney J. Scott and Bente A. Talseth-Palmer

    Version of Record online : 11 JAN 2016, DOI: 10.1002/mgg3.198

  18. ORIGINAL RESEARCH—COUPLES' SEXUAL DYSFUNCTIONS: The Effect of the Mode of Delivery on the Quality of Life, Sexual Function, and Sexual Satisfaction in Primiparous Women and Their Husbands

    The Journal of Sexual Medicine

    Volume 6, Issue 6, June 2009, Pages: 1645–1667, Mohammad Reza Safarinejad, Ali Asgar Kolahi and Ladan Hosseini

    Version of Record online : 18 MAR 2009, DOI: 10.1111/j.1743-6109.2009.01232.x

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    Evaluation of the occlusion vertical dimension of complete dentures after microwave disinfection

    Gerodontology

    Volume 29, Issue 2, June 2012, Pages: e815–e821, Michael F. M. Basso, Eunice T. Giampaolo, Ana L. Machado, Ana C. Pavarina and Carlos E. Vergani

    Version of Record online : 9 OCT 2011, DOI: 10.1111/j.1741-2358.2011.00567.x

  20. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1519–1528, Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto-van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel Boogaard, Margot M.L. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. (Ellen) Vollebregt, the Coffin-Siris consortium, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton-Smith, Bert B.A. de Vries, Raoul C.M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben-Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate E. Chandler, Krystyna Chrzanowska, Amanda L. Collins, Teresa de Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham Jr., Victoria Harrison, Denise Horn, Marjolijn C. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska-Walasek, Nancy Kramer, Saskia M. Maas, Patricia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury-Ecob, Sarah M. Nikkel, Michael J. Parker, Luis A. Pérez-Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Smigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tuysuz, Albertien M. van Eerde, Catherine Vincent-Delorme, Louise C. Wilson and Gozde Yesil

    Version of Record online : 30 AUG 2013, DOI: 10.1002/humu.22394