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There are 632 results for: content related to: Functional Analysis of Missense Mutations of OAT , Causing Gyrate Atrophy of Choroid and Retina

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  1. The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 317–329, Michael L. Nickerson, Allen D. Bosley, Jayne S. Weiss, Brittany N. Kostiha, Yoshihisa Hirota, Wolfgang Brandt, Dominic Esposito, Shigeru Kinoshita, Ludger Wessjohann, Scott G. Morham, Thorkell Andresson, Howard S. Kruth, Toshio Okano and Michael Dean

    Article first published online : 27 NOV 2012, DOI: 10.1002/humu.22230

  2. Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 338–344, Geng Chen, Chengxiang Qiu, Qipeng Zhang, Bing Liu and Qinghua Cui

    Article first published online : 27 NOV 2012, DOI: 10.1002/humu.22239

  3. Modeling Tumor Progression by the Sequential Introduction of Genetic Alterations into the Genome of Human Normal Cells

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 330–337, Davide Zecchin, Sabrina Arena, Miriam Martini, Francesco Sassi, Alberto Pisacane, Federica Di Nicolantonio and Alberto Bardelli

    Article first published online : 4 JAN 2013, DOI: 10.1002/humu.22234

  4. Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 309–316, Byung Yoon Choi, Do-Hwan Kim, Taesu Chung, Mi Chang, Eun-Hye Kim, Ah Reum Kim, Jungirl Seok, Sun O Chang, Jinwoong Bok, Dongsup Kim, Seung-Ha Oh and Woong-Yang Park

    Article first published online : 17 OCT 2012, DOI: 10.1002/humu.22232

  5. MT-ND5 Mutation Causing Exercise Intolerance Displays Intercellular Heteroplasmy and Rapid Shifts Between Generations

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 292–295, Petter Schandl Sanaker and Laurence A. Bindoff

    Article first published online : 4 JAN 2013, DOI: 10.1002/humu.22238

  6. A Novel RAB33B Mutation in Smith–McCort Dysplasia

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 283–286, Nina Dupuis, Sophie Lebon, Manoj Kumar, Séverine Drunat, Luitgard M. Graul-Neumann, Pierre Gressens and Vincent El Ghouzzi

    Article first published online : 8 NOV 2012, DOI: 10.1002/humu.22235

  7. Unilateral Cryptorchidism in Mice Mutant for Ptgds

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 278–282, Pascal Philibert, Brigitte Boizet-Bonhoure, Anu Bashamboo, Françoise Paris, Kosuke Aritake, Yoshihiro Urade, Juliane Leger, Charles Sultan and Francis Poulat

    Article first published online : 17 OCT 2012, DOI: 10.1002/humu.22231

  8. Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 287–291, Alexandre Hinzpeter, Abdel Aissat, Alix de Becdelièvre, Eric Bieth, Elvira Sondo, Natacha Martin, Bruno Costes, Catherine Costa, Michel Goossens, Luis J.V. Galietta, Emmanuelle Girodon and Pascale Fanen

    Article first published online : 8 NOV 2012, DOI: 10.1002/humu.22236

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    Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 210–220, Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga-Jauregui, Claudia M.B. Carvalho, James R. Lupski, Paweł Stankiewicz and Anna Gambin

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22217

  10. Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 669–685, Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22279

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    General Olfactory Sensitivity Database (GOSdb): Candidate Genes and their Genomic Variations

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 32–41, Ifat Keydar, Edna Ben-Asher, Ester Feldmesser, Noam Nativ, Arisa Oshimoto, Diego Restrepo, Hiroaki Matsunami, Ming-Shan Chien, Jayant M. Pinto, Yoav Gilad, Tsviya Olender and Doron Lancet

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22212

  12. An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 417–429, Zeynep Tümer

    Article first published online : 18 FEB 2013, DOI: 10.1002/humu.22266

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    The Facial Evolution: Looking Backward and Moving Forward

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 14–22, Gareth Baynam, Mark Walters, Peter Claes, Stefanie Kung, Peter LeSouef, Hugh Dawkins, David Gillett and Jack Goldblatt

    Article first published online : 2 NOV 2012, DOI: 10.1002/humu.22219

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    A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 200–209, Bryony A. Thompson, David E. Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T. Parsons, Walsh Michael D., Steven Gallinger, Robert W. Haile, John L. Hopper, Mark A. Jenkins, Loic LeMarchand, Noralane M. Lindor, Polly A. Newcomb, Stephen N. Thibodeau, Colon Cancer Family Registry, Joanne P. Young, Daniel D. Buchanan, Sean V. Tavtigian and Amanda B. Spurdle

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22213

  15. You have full text access to this OnlineOpen article
    RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 546–556, Radhakrishnan Sabarinathan, Hakim Tafer, Stefan E. Seemann, Ivo L. Hofacker, Peter F. Stadler and Jan Gorodkin

    Article first published online : 20 MAR 2013, DOI: 10.1002/humu.22273

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    Erratum: RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs

    Vol. 34, Issue 6, 925, Article first published online: 9 APR 2013

  16. An MLPA-Based Strategy for Discrete CNV Genotyping: CNV-miRNAs as an Example

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 763–773, Malgorzata Marcinkowska-Swojak, Barbara Uszczynska, Marek Figlerowicz and Piotr Kozlowski

    Article first published online : 8 MAR 2013, DOI: 10.1002/humu.22288

  17. You have full text access to this OnlineOpen article
    Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 525–537, Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli and Tiziano Verri

    Article first published online : 18 FEB 2013, DOI: 10.1002/humu.22269

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    Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 237–247, Izak J. Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Katrina E. Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns and Deborah J. Morris-Rosendahl

    Article first published online : 17 OCT 2012, DOI: 10.1002/humu.22224

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    FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 23–31, Kristiana Gordon, Sarah L. Spiden, Fiona C. Connell, Glen Brice, Sally Cottrell, John Short, Rohan Taylor, Steve Jeffery, Peter S. Mortimer, Sahar Mansour and Pia Ostergaard

    Article first published online : 16 OCT 2012, DOI: 10.1002/humu.22223

  20. Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 374–384, Houda Mokrani-Benhelli, Laetitia Gaillard, Patricia Biasutto, Tangui Le Guen, Fabien Touzot, Nadia Vasquez, Jun Komatsu, Emmanuel Conseiller, Capucine Pïcard, Eliane Gluckman, Christine Francannet, Alain Fischer, Anne Durandy, Jean Soulier, Jean-Pierre de Villartay, Marina Cavazzana-Calvo and Patrick Revy

    Article first published online : 20 DEC 2012, DOI: 10.1002/humu.22245

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