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There are 28570 results for: content related to: The Facial Evolution: Looking Backward and Moving Forward

  1. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22319

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    Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 579–597, Abhishek Niroula and Mauno Vihinen

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22987

  3. You have full text access to this OnlineOpen article
    Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novoSCN1A Mutations in Children with Dravet Syndrome

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 861–872, Xiaojing Xu, Xiaoxu Yang, Qixi Wu, Aijie Liu, Xiaoling Yang, Adam Yongxin Ye, August Yue Huang, Jiarui Li, Meng Wang, Zhe Yu, Sheng Wang, Zhichao Zhang, Xiru Wu, Liping Wei and Yuehua Zhang

    Version of Record online : 24 JUL 2015, DOI: 10.1002/humu.22819

  4. Mutation Update for GNE Gene Variants Associated with GNE Myopathy

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 915–926, Frank V. Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo-Carrasco and Marjan Huizing

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22583

  5. Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 1–13, Stuart Cantsilieris and Stefan J. White

    Version of Record online : 23 AUG 2012, DOI: 10.1002/humu.22172

  6. You have full text access to this OnlineOpen article
    The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 118–128, Carl Mårten Lindqvist, Jessica Nordlund, Diana Ekman, Anna Johansson, Behrooz Torabi Moghadam, Amanda Raine, Elin Övernäs, Johan Dahlberg, Per Wahlberg, Niklas Henriksson, Jonas Abrahamsson, Britt-Marie Frost, Dan Grandér, Mats Heyman, Rolf Larsson, Josefine Palle, Stefan Söderhäll, Erik Forestier, Gudmar Lönnerholm, Ann-Christine Syvänen and Eva C. Berglund

    Version of Record online : 30 DEC 2014, DOI: 10.1002/humu.22719

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    Mutant TP53 Posttranslational Modifications: Challenges and Opportunities

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 738–755, Thuy-Ai Nguyen, Daniel Menendez, Michael A. Resnick and Carl W. Anderson

    Version of Record online : 11 FEB 2014, DOI: 10.1002/humu.22506

  8. Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 16–27, Martina Cesani, Laura Lorioli, Serena Grossi, Giulia Amico, Francesca Fumagalli, Ivana Spiga, Mirella Filocamo and Alessandra Biffi

    Version of Record online : 4 NOV 2015, DOI: 10.1002/humu.22919

  9. Prediction of the Repeat Domain Structures and Impact of Parkinsonism-Associated Variations on Structure and Function of all Functional Domains of Leucine-Rich Repeat Kinase 2 (LRRK2)

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 395–412, Ryan D. Mills, Terrence D. Mulhern, Fei Liu, Janetta G. Culvenor and Heung-Chin Cheng

    Version of Record online : 24 FEB 2014, DOI: 10.1002/humu.22515

  10. Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the CYBB Gene

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 486–496, Martin de Boer, Karin van Leeuwen, Judy Geissler, Corry M. Weemaes, Timo K. van den Berg, Taco W. Kuijpers, Adilia Warris and Dirk Roos

    Version of Record online : 24 FEB 2014, DOI: 10.1002/humu.22519

  11. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 151–164, Lucia Guidugli, Aura Carreira, Sandrine M. Caputo, Asa Ehlen, Alvaro Galli, Alvaro N.A. Monteiro, Susan L. Neuhausen, Thomas V.O. Hansen, Fergus J. Couch, Maaike P.G. Vreeswijk and ; on behalf of the ENIGMA consortium

    Version of Record online : 3 DEC 2013, DOI: 10.1002/humu.22478

  12. On Human Disease-Causing Amino Acid Variants: Statistical Study of Sequence and Structural Patterns

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 524–534, Marharyta Petukh, Tugba G. Kucukkal and Emil Alexov

    Version of Record online : 6 APR 2015, DOI: 10.1002/humu.22770

  13. Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1101–1113, Jasmin Hettich, Scott D. Ryan, Osmar Norberto de Souza, Luís Fernando Saraiva Macedo Timmers, Shelun Tsai, Nadia A. Atai, Cintia C. da Hora, Xuan Zhang, Rashmi Kothary, Erik Snapp, Maria Ericsson, Kathrin Grundmann, Xandra O. Breakefield and Flávia C. Nery

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22602

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    TP53 Mutants in the Tower of Babel of Cancer Progression

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 689–701, Alessandra Bisio, Yari Ciribilli, Gilberto Fronza, Alberto Inga and Paola Monti

    Version of Record online : 14 MAR 2014, DOI: 10.1002/humu.22514

  15. An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1597–1605, K. Joeri van der Velde, Herschel S. Dhekne, Morris A. Swertz, Serena Sirigu, Virginie Ropars, Petra C. Vinke, Trebor Rengaw, Peter C. van den Akker, Edmond H. H. M. Rings, Anne Houdusse and Sven C. D. van Ijzendoorn

    Version of Record online : 16 OCT 2013, DOI: 10.1002/humu.22440

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    Insights into Wild-Type and Mutant p53 Functions Provided by Genetically Engineered Mice

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 715–727, Lawrence A. Donehower

    Version of Record online : 5 FEB 2014, DOI: 10.1002/humu.22507

  17. Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 215–226, Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N. Cooper and Hildegard Kehrer-Sawatzki

    Version of Record online : 2 DEC 2013, DOI: 10.1002/humu.22473

  18. Long-Standing Balancing Selection in the THBS4 Gene: Influence on Sex-Specific Brain Expression and Gray Matter Volumes in Alzheimer Disease

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 743–753, Rachele Cagliani, Franca R. Guerini, Raquel Rubio-Acero, Francesca Baglio, Diego Forni, Cristina Agliardi, Ludovica Griffanti, Matteo Fumagalli, Uberto Pozzoli, Stefania Riva, Elena Calabrese, Martin Sikora, Ferran Casals, Giacomo P. Comi, Nereo Bresolin, Mario Cáceres, Mario Clerici and Manuela Sironi

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22301

  19. Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1119–1130, Jian-Min Chen, Claude Férec and David N. Cooper

    Version of Record online : 20 MAY 2013, DOI: 10.1002/humu.22341

  20. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 15–26, Celeste Bento, Melanie J. Percy, Betty Gardie, Tabita Magalhães Maia, Richard van Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cedric Rossi, François Girodon, Maria Åström, Drorit Neumann, Susanne Schnittger, Britta Landin, Milen Minkov, Maria Luigia Randi, Stéphane Richard, Nicole Casadevall, William Vainchenker, Susana Rives, Sylvie Hermouet, M. Leticia Ribeiro, Mary Frances McMullin, Holger Cario, on behalf of ECE-Consortium, Aurelie Chauveau, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de-Paillerets, Didem Altindirek, Felipe Lorenzo, Frederic Lambert, Harlev Dan, Sophie Gad-Lapiteau, Ana Catarina Oliveira, Cédric Rossi, Cristina Fraga, Gennadiy Taradin, Guillermo Martin-Nuñez, Helena Vitória, Herrera Diaz Aguado, Jan Palmblad, Julia Vidán, Luis Relvas, Maria Leticia Ribeiro, Maria Luigi Larocca, Maria Luigia Randi, Maria Pedro Silveira, Melanie Percy, Mor Gross, Ricardo Marques da Costa, Soheir Beshara, Tal Ben-Ami and Valérie Ugo

    Version of Record online : 22 OCT 2013, DOI: 10.1002/humu.22448