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There are 15749 results for: content related to: Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

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    Naturally Occurring Genetic Variants of Human Caspase-1 Differ Considerably in Structure and the Ability to Activate Interleukin-1β

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 122–131, Hella Luksch, Michael J. Romanowski, Osvaldo Chara, Victoria Tüngler, Ernesto R. Caffarena, Michael C. Heymann, Peter Lohse, Ivona Aksentijevich, Elaine F. Remmers, Silvana Flecks, Nadine Quoos, Johannes Gramatté, Cathleen Petzold, Sigrun R. Hofmann, Stefan Winkler, Frank Pessler, Tilmann Kallinich, Gerd Ganser, Antje Nimtz-Talaska, Ulrich Baumann, Volker Runde, Bodo Grimbacher, Jennifer Birmelin, Manfred Gahr, Joachim Roesler and Angela Rösen-Wolff

    Article first published online : 10 AUG 2012, DOI: 10.1002/humu.22169

  2. Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 411–416, Francesca Marta Elli, Luisa deSanctis, Barbara Ceoloni, Anna Maria Barbieri, Paolo Bordogna, Paolo Beck-Peccoz, Anna Spada and Giovanna Mantovani

    Article first published online : 18 JAN 2013, DOI: 10.1002/humu.22265

  3. Markers of upper airway inflammation associated with microbial exposure and symptoms in occupants of a water-damaged building

    American Journal of Industrial Medicine

    Volume 56, Issue 5, May 2013, Pages: 522–530, Muge Akpinar-Elci, Sandra K. White, Paul D. Siegel, Ju-Hyeong Park, Alexis Visotcky, Kathleen Kreiss and Jean M. Cox-Ganser

    Article first published online : 6 FEB 2013, DOI: 10.1002/ajim.22165

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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

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    Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 157–166, Rachel Adihe Lokanga, Ali Entezam, Daman Kumari, Dmitry Yudkin, Mei Qin, Carolyn Beebe Smith and Karen Usdin

    Article first published online : 4 OCT 2012, DOI: 10.1002/humu.22177

  6. Mass balance of glaciers and ice caps: Consensus estimates for 1961–2004

    Geophysical Research Letters

    Volume 33, Issue 19, October 2006, G. Kaser, J. G. Cogley, M. B. Dyurgerov, M. F. Meier and A. Ohmura

    Article first published online : 4 OCT 2006, DOI: 10.1029/2006GL027511

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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

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    Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 79–82, Alberto García-Redondo, Oriol Dols-Icardo, Ricard Rojas-García, Jesús Esteban-Pérez, Pilar Cordero-Vázquez, José Luis Muñoz-Blanco, Irene Catalina, Miguel González-Muñoz, Luis Varona, Esther Sarasola, Monica Povedano, Teresa Sevilla, Antonio Guerrero, Julio Pardo, Adolfo López de Munain, Celedonio Márquez-Infante, Francisco Javier Rodríguez de Rivera, Pau Pastor, Ivonne Jericó, Amaya Álvarez de Arcaya, Jesús S. Mora, Jordi Clarimón, The C9ORF72 Spanish Study Group, Juan Francisco Gonzalo-Martínez, Alexandra Juárez-Rufián, Gabriela Atencia, Rosario Jiménez-Bautista, Yolanda Morán, Javier Mascías, María Hernández-Barral, Solange Kapetanovic, María García-Barcina, Carmen Alcalá, Álvaro Vela, Concepción Ramírez-Ramos, Lucía Galán, Jordi Pérez-Tur, Beatriz Quintáns, M Jesús Sobrido, Roberto Fernández-Torrón, Juan José Poza, Ana Gorostidi, Carmen Paradas, Pablo Villoslada, Pilar Larrodé, José Luis Capablo, Jordi Pascual-Calvet, Miguel Goñi, Yolanda Morgado, Miriam Guitart, Sira Moreno-Laguna, Almudena Rueda, Carlos Martín-Estefanía, Carlos Cemillán, Rafael Blesa and Alberto Lleó

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22211

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    A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 191–199, Aimée Vester, Gisselle Velez-Ruiz, Heather M. McLaughlin, NISC Comparative Sequencing Program, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Ricardo H. Roda, Kenneth H. Fischbeck, Leslie G. Biesecker, Garth Nicholson, Asim A. Beg and Anthony Antonellis

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22210

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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

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    Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 88–92, Carine Le Goff, Clémentine Mahaut, Armand Bottani, Berenice Doray, Alice Goldenberg, Anne Moncla, Sylvie Odent, Patrick Nitschke, Arnold Munnich, Laurence Faivre and Valérie Cormier-Daire

    Article first published online : 16 OCT 2012, DOI: 10.1002/humu.22216

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    Molecular Analysis of the Rare In(Lu) Blood Type: Toward Decoding the Phenotypic Outcome of Haploinsufficiency for the Transcription Factor KLF1

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 221–228, Virginie Helias, Carole Saison, Thierry Peyrard, Eliane Vera, Claude Prehu, Jean-Pierre Cartron and Lionel Arnaud

    Article first published online : 2 NOV 2012, DOI: 10.1002/humu.22218

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    Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 83–87, Marie Marduel, Khadija Ouguerram, Valérie Serre, Dominique Bonnefont-Rousselot, Alice Marques-Pinheiro, Knut Erik Berge, Martine Devillers, Gérald Luc, Jean-Michel Lecerf, Laurent Tosolini, Danièle Erlich, Gina M. Peloso, Nathan Stitziel, Patrick Nitchké, Jean-Philippe Jaïs, The French Research Network on ADH, Marianne Abifadel, Sekar Kathiresan, Trond Paul Leren, Jean-Pierre Rabès, Catherine Boileau and Mathilde Varret

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22215

  14. A practical implementation of multifrequency widefield frequency-domain fluorescence lifetime imaging microscopy

    Microscopy Research and Technique

    Volume 76, Issue 3, March 2013, Pages: 282–289, Hongtao Chen and Enrico Gratton

    Article first published online : 7 JAN 2013, DOI: 10.1002/jemt.22165

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    Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 255–265, Bryony A. Thompson, Marc S. Greenblatt, Maxime P. Vallee, Johanna C. Herkert, Chloe Tessereau, Erin L. Young, Ivan A. Adzhubey, Biao Li, Russell Bell, Bingjian Feng, Sean D. Mooney, Predrag Radivojac, Shamil R. Sunyaev, Thierry Frebourg, Robert M.W. Hofstra, Rolf H. Sijmons, Ken Boucher, Alun Thomas, David E. Goldgar, Amanda B. Spurdle and Sean V. Tavtigian

    Article first published online : 22 OCT 2012, DOI: 10.1002/humu.22214

  16. Influence of mountain venting in the Alps on the ozone chemistry of the lower free troposphere and the European pollution export

    Journal of Geophysical Research: Atmospheres (1984–2012)

    Volume 110, Issue D22, 27 November 2005, S. Henne, J. Dommen, B. Neininger, S. Reimann, J. Staehelin and A. S. H. Prévôt

    Article first published online : 29 NOV 2005, DOI: 10.1029/2005JD005936

  17. Receptor-dependent regulation of dendrite formation of noradrenaline and dopamine in non-gabaergic cerebral cortical neurons

    Developmental Neurobiology

    Volume 73, Issue 5, May 2013, Pages: 370–383, Fei Li, Akiko Ohtani, Kouji Senzaki and Takashi Shiga

    Article first published online : 29 NOV 2012, DOI: 10.1002/dneu.22065

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    Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 132–142, Brandy D. Hyndman, Taranjit S. Gujral, Jonathan R. Krieger, Jessica G. Cockburn and Lois M. Mulligan

    Article first published online : 23 AUG 2012, DOI: 10.1002/humu.22170

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    Expanding the spectral palette of fluorescent proteins for the green microalga Chlamydomonas reinhardtii

    The Plant Journal

    Volume 74, Issue 4, May 2013, Pages: 545–556, Beth A. Rasala, Daniel J. Barrera, Jenny Ng, Thomas M. Plucinak, Julian N. Rosenberg, Donald P. Weeks, George A. Oyler, Todd C. Peterson, Farzad Haerizadeh and Stephen P. Mayfield

    Article first published online : 8 APR 2013, DOI: 10.1111/tpj.12165

  20. Late Cretaceous to Paleocene oroclinal bending in the central Pontides (Turkey)

    Tectonics

    Volume 29, Issue 4, August 2010, Maud J. M. Meijers, Nuretdin Kaymakci, Douwe J. J. van Hinsbergen, Cor G. Langereis, Randell A. Stephenson and Jean-Claude Hippolyte

    Article first published online : 3 AUG 2010, DOI: 10.1029/2009TC002620

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