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There are 2380 results for: content related to: A Novel RAB33B Mutation in S mith– M c C ort Dysplasia

  1. You have full text access to this OnlineOpen article
    Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

    Human Mutation

    Volume 38, Issue 12, December 2017, Pages: 1621–1648, Luís Cardoso, Mark Stevenson and Rajesh V. Thakker

    Version of Record online : 25 SEP 2017, DOI: 10.1002/humu.23337

  2. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 686–696, Mark T. Handley, Deborah J. Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy, Danai Bem, Sarah M. Carpanini, Guntram Borck, Loreto Martorell, Claudia Izzi, Francesca Faravelli, Patrizia Accorsi, Lorenzo Pinelli, Lina Basel-Vanagaite, Gabriela Peretz, Ghada M.H. Abdel-Salam, Maha S. Zaki, Anna Jansen, David Mowat, Ian Glass, Helen Stewart, Grazia Mancini, Damien Lederer, Tony Roscioli, Fabienne Giuliano, Astrid S. Plomp, Arndt Rolfs, John M. Graham, Eva Seemanova, Pilar Poo, Àngels García-Cazorla, Patrick Edery, Ian J. Jackson, Eamonn R. Maher and Irene A. Aligianis

    Version of Record online : 11 APR 2013, DOI: 10.1002/humu.22296

  3. You have full text access to this OnlineOpen article
    TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Human Mutation

    Volume 38, Issue 3, March 2017, Pages: 297–309, Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker, Jonathan Baets, Ellen Gelpi, Ricardo Rojas-García, Jordi Clarimón, Alberto Lleó, Janine Diehl-Schmid, Panagiotis Alexopoulos, Robert Perneczky, Matthis Synofzik, Jennifer Just, Ludger Schöls, Caroline Graff, Håkan Thonberg, Barbara Borroni, Alessandro Padovani, Albena Jordanova, Stayko Sarafov, Ivailo Tournev, Alexandre de Mendonça, Gabriel Miltenberger-Miltényi, Frederico Simões do Couto, Alfredo Ramirez, Frank Jessen, Michael T. Heneka, Estrella Gómez-Tortosa, Adrian Danek, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P. De Deyn, Kristel Sleegers, Marc Cruts, Christine Van Broeckhoven, Johan Goeman, Dirk Nuytten, Katrien Smets, Wim Robberecht, Philip Van Damme, Jan De Bleecker, Patrick Santens, Bart Dermaut, Jan Versijpt, Alex Michotte, Adrian Ivanoiu, Olivier Deryck, Bruno Bergmans, Jean Delbeck, Marc Bruyland, Christiana Willems, Eric Salmon, Pau Pastor, Sara Ortega-Cubero, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Isabel Hernández, Mercè Boada, Agustín Ruiz, Sandro Sorbi, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Raquel Sanchez-Valle, Albert Llado, Isabel Santana, Maria Rosário Almeida, Giovanni B Frisoni, Walter Maetzler, Radoslav Matej, Matthew J. Fraidakis, Gabor G. Kovacs, Gian Maria Fabrizi and Silvia Testi

    Version of Record online : 19 JAN 2017, DOI: 10.1002/humu.23161

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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

  5. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 847–864, Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H. Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit and Bernd Wollnik

    Version of Record online : 7 JUL 2016, DOI: 10.1002/humu.23026

  6. 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

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    Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 880–890, Agnete Fossbakk, Rune Kleppe, Per M. Knappskog, Aurora Martinez and Jan Haavik

    Version of Record online : 3 JUN 2014, DOI: 10.1002/humu.22565

  8. CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

    Human Mutation

    Volume 39, Issue 1, January 2018, Pages: 5–22, Leandro Simonetti, Carlos D. Bruque, Cecilia S. Fernández, Belén Benavides-Mori, Marisol Delea, Jorge E. Kolomenski, Lucía D. Espeche, Noemí D. Buzzalino, Alejandro D. Nadra and Liliana Dain

    Version of Record online : 6 NOV 2017, DOI: 10.1002/humu.23351

  9. Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1149–1159, Carmen Diez-Fernandez, Ana I. Martínez, Satu Pekkala, Belén Barcelona, Isabel Pérez-Arellano, Ana María Guadalajara, Marshall Summar, Javier Cervera and Vicente Rubio

    Version of Record online : 28 MAY 2013, DOI: 10.1002/humu.22349

  10. Functional and molecular studies in primary carnitine deficiency

    Human Mutation

    Volume 38, Issue 12, December 2017, Pages: 1684–1699, Marta Frigeni, Bijina Balakrishnan, Xue Yin, Fernanda R.O. Calderon, Rong Mao, Marzia Pasquali and Nicola Longo

    Version of Record online : 14 SEP 2017, DOI: 10.1002/humu.23315

  11. 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

  12. You have full text access to this OnlineOpen article
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1052–1063, Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, Dusica Babovic-Vuksanovic, Christopher P. Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary Bellus, Shay Ben-Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortes, Karen L. David, Anne Destree, Anna Duat-Rodriguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begona Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepcion Hernández-Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth A Keena, Isabel Llano-Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin-Parton, Helio Pedro, Eniko K. Pivnick, Cynthia M. Powell, Linda Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta Seashore, Christian P. Schaaf, Angela Scheuerle, Meredith Schultz, Elizabeth Schorry, Rhonda Schnur, Elizabeth Siqveland, Amanda Tkachuk, James Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie Wallace, Charles Williams, Elaine Zackai, Jonathan Zonana, Conxi Lazaro, Kathleen Claes, Bruce Korf, Yolanda Martin, Eric Legius and Ludwine Messiaen

    Version of Record online : 21 AUG 2015, DOI: 10.1002/humu.22832

  13. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey–Hailey Disease

    Human Mutation

    Volume 38, Issue 4, April 2017, Pages: 343–356, Ruud G.L. Nellen, Peter M. Steijlen, Maurice A.M. van Steensel, Maaike Vreeburg, European Professional Contributors, Jorge Frank and Michel van Geel

    Version of Record online : 15 FEB 2017, DOI: 10.1002/humu.23164

  14. Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1393–1406, Emilie Cornec-Le Gall, Marie-Pierre Audrézet, Yannick Le Meur, Jian-Min Chen and Claude Férec

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22708

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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

  16. Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 165–177, Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, Elio Esposito, Maria Giuseppina Miano, Maria Brigida Lioi, Maeve A. McAleer, Giuliana Giardino, Claudio Pignata, Alan D. Irvine, Angela E. Scheuerle, Ghislaine Royer, Smail Hadj-Rabia, Christine Bodemer, Jean-Paul Bonnefont, Arnold Munnich, Asma Smahi, Julie Steffann, Francesca Fusco and Matilde Valeria Ursini

    Version of Record online : 12 DEC 2013, DOI: 10.1002/humu.22483

  17. IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1329–1339, Esther van de Vosse, Margje H. Haverkamp, Noe Ramirez-Alejo, Mónica Martinez-Gallo, Lizbeth Blancas-Galicia, Ayşe Metin, Ben Zion Garty, Çağman Sun-Tan, Arnon Broides, Roelof A. de Paus, Özlem Keskin, Deniz Çağdaş, Ilhan Tezcan, Encarna Lopez-Ruzafa, Juan I. Aróstegui, Jacov Levy, Francisco J. Espinosa-Rosales, Özden Sanal, Leopoldo Santos-Argumedo, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Jaap T. van Dissel and Jacinta Bustamante

    Version of Record online : 8 AUG 2013, DOI: 10.1002/humu.22380

  18. 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

    Version of Record online : 27 NOV 2012, DOI: 10.1002/humu.22230

    Corrected by:

    Erratum: The UBIAD1 Prenyltransferase Links Menaquinone-4 Synthesis to Cholesterol Metabolic Enzymes

    Vol. 34, Issue 7, 1046, Version of Record online: 30 APR 2013

  19. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

    Human Mutation

    Volume 39, Issue 1, January 2018, Pages: 23–39, Ashley P. L. Marsh, Timothy J. Edwards, Charles Galea, Helen M. Cooper, Elizabeth C. Engle, Saumya S. Jamuar, Aurélie Méneret, Marie-Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, IRC5 Consortium, Delphine Heron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer and Paul J. Lockhart

    Version of Record online : 11 NOV 2017, DOI: 10.1002/humu.23361

  20. 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

    Version of Record online : 16 OCT 2012, DOI: 10.1002/humu.22223