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There are 21545 results for: content related to: Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN 1 B , Results in Overgrowth and Neurodevelopmental Delay

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    Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 801–811, Partha Sen, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, Hasnaa Mostafa, Harry Kozakewich, Debra Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John Petty, Zeina Kiblawi, Craig Zuppan, Allyn McConkie-Rosell, Marie T. McDonald, Stacey L. Peterson-Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe S. Friedlich, Stephen R. Hays, Irene Valenzuela Palafoll, Ulrike Siebers-Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane Brumbaugh, Kari Roberts, Luk Ho-ming, Ivan F. M. Lo, Stephen Lam, Romana Gerychova, Marta Jezova, Iveta Valaskova, Florence Fellmann, Katayoun Afshar, Eric Giannoni, Vincent Muhlethaler, Jinlong Liang, Jacques S. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw-Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barrea, Christine Galant, Thierry Detaille, Jennifer A. Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E.M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael L. Baker, Claire Langston, Stephen Welty and Pawel Stankiewicz

    Article first published online : 12 APR 2013, DOI: 10.1002/humu.22313

  2. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 827–835, Dimitre R. Simeonov, Xinjing Wang, Chen Wang, Yuri Sergeev, Monika Dolinska, Matthew Bower, Roxanne Fischer, David Winer, Genia Dubrovsky, Joan Z. Balog, Marjan Huizing, Rachel Hart, Wadih M. Zein, William A. Gahl, Brian P. Brooks and David R. Adams

    Article first published online : 30 APR 2013, DOI: 10.1002/humu.22315

  3. Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 869–872, Mathieu Milh, Antonio Falace, Nathalie Villeneuve, Nicola Vanni, Pierre Cacciagli, Stefania Assereto, Rima Nabbout, Fabio Benfenati, Federico Zara, Brigitte Chabrol, Laurent Villard and Anna Fassio

    Article first published online : 12 APR 2013, DOI: 10.1002/humu.22318

  4. Prioritization of Retinal Disease Genes: An Integrative Approach

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 853–859, Alex H. Wagner, Kyle R. Taylor, Adam P. DeLuca, Thomas L. Casavant, Robert F. Mullins, Edwin M. Stone, Todd E. Scheetz and Terry A. Braun

    Article first published online : 12 APR 2013, DOI: 10.1002/humu.22317

  5. Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 847–852, Danielle Ingham, Christine P. Diggle, Ian Berry, Claire A. Bristow, Bruce E. Hayward, Nazneen Rahman, Alexander F. Markham, Eamonn G. Sheridan, David T. Bonthron and Ian M. Carr

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22311

  6. 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

  7. Imaging the crustal structure of the Central Iberian Zone (Variscan Belt): The ALCUDIA deep seismic reflection transect

    Tectonics

    Volume 31, Issue 3, June 2012, D. Martínez Poyatos, R. Carbonell, I. Palomeras, J. F. Simancas, P. Ayarza, D. Martí, A. Azor, A. Jabaloy, P. González Cuadra, R. Tejero, L. M. Martín Parra, J. Matas, F. González Lodeiro, A. Pérez-Estaún, J. L. García Lobón and L. Mansilla

    Article first published online : 15 JUN 2012, DOI: 10.1029/2011TC002995

  8. Remote sensing of surface pressure on Mars with the Mars Express/OMEGA spectrometer: 2. Meteorological maps

    Journal of Geophysical Research: Planets (1991–2012)

    Volume 112, Issue E8, August 2007, Aymeric Spiga, François Forget, Bastien Dolla, Sandrine Vinatier, Riccardo Melchiorri, Pierre Drossart, Aline Gendrin, Jean-Pierre Bibring, Yves Langevin and Brigitte Gondet

    Article first published online : 30 AUG 2007, DOI: 10.1029/2006JE002870

  9. Recent changes in Arctic Ocean circulation revealed by iodine-129 observations and modeling

    Journal of Geophysical Research: Oceans (1978–2012)

    Volume 117, Issue C8, August 2012, Michael Karcher, John N. Smith, Frank Kauker, Rüdiger Gerdes and William M. Smethie Jr.

    Article first published online : 3 AUG 2012, DOI: 10.1029/2011JC007513

  10. 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

    Article first published online : 29 APR 2013, DOI: 10.1002/humu.22319

  11. Inferior alveolar nerve injury associated with implant surgery

    Clinical Oral Implants Research

    Volume 24, Issue 2, February 2013, Pages: 183–190, Gintaras Juodzbalys, Hom-Lay Wang, Gintautas Sabalys, Antanas Sidlauskas and Pablo Galindo-Moreno

    Article first published online : 1 NOV 2011, DOI: 10.1111/j.1600-0501.2011.02314.x

  12. Full-wave optoelectrical modeling of optimized flattened light-scattering substrate for high efficiency thin-film silicon solar cells

    Progress in Photovoltaics: Research and Applications

    Olindo Isabella, Hitoshi Sai, Michio Kondo and Miro Zeman

    Article first published online : 10 DEC 2012, DOI: 10.1002/pip.2314

  13. Mega-pulses and megacycles in East Asian monsoon variations recorded in Chinese loess-red clay magnetic susceptibility

    Geophysical Research Letters

    Volume 33, Issue 18, September 2006, Shangfa Xiong, Wenying Jiang and Tungsheng Liu

    Article first published online : 21 SEP 2006, DOI: 10.1029/2006GL027842

  14. Tracing the Paleo sulfate-methane transition zones and H2S seepage events in marine sediments: An application of C-S-Mo systematics

    Geochemistry, Geophysics, Geosystems

    Volume 13, Issue 10, October 2012, A. Peketi, A. Mazumdar (corresponding author), R. K. Joshi, D. J. Patil, P. L. Srinivas and A. M. Dayal

    Article first published online : 10 OCT 2012, DOI: 10.1029/2012GC004288

  15. Regional advanced very high resolution radiometer–derived climatology of aerosol optical thickness and size

    Journal of Geophysical Research: Atmospheres (1984–2012)

    Volume 110, Issue D23, 16 December 2005, Igor V. Geogdzhayev, Michael I. Mishchenko, Edward I. Terez, Galina A. Terez and Genady K. Gushchin

    Article first published online : 3 DEC 2005, DOI: 10.1029/2005JD006170

  16. Cardiovascular function in adulthood following intrauterine growth restriction with abnormal fetal blood flow

    Ultrasound in Obstetrics & Gynecology

    Volume 41, Issue 2, February 2013, Pages: 177–184, N. Bjarnegård, E. Morsing, M. Cinthio, T. Länne and J. Brodszki

    Article first published online : 31 JAN 2013, DOI: 10.1002/uog.12314

  17. Meta-analysis: pegylated interferon α-2a achieves higher early virological responses than α-2b in chronic hepatitis C

    Alimentary Pharmacology & Therapeutics

    Volume 37, Issue 11, June 2013, Pages: 1065–1073, M. Romero-Gómez, R. Planas, J. Ampuero, R. Solà, J. García-Samaniego, M. Diago, J. Crespo, J. L. Calleja and J. Turnes

    Article first published online : 14 APR 2013, DOI: 10.1111/apt.12314

  18. Adaptive blind receivers for MC-CDMA communication systems

    Wireless Communications and Mobile Computing

    Jun-Da Chen, Fang-Biau Ueng and Chien-Hung Chen

    Article first published online : 6 NOV 2012, DOI: 10.1002/wcm.2314

  19. Traditional and microirrigation with stochastic soil moisture

    Water Resources Research

    Volume 46, Issue 3, March 2010, Giulia Vico and Amilcare Porporato

    Article first published online : 9 MAR 2010, DOI: 10.1029/2009WR008130

  20. 32S/34S isotope fractionation in plant sulphur metabolism

    New Phytologist

    Guillaume Tcherkez and Illa Tea

    Article first published online : 21 MAY 2013, DOI: 10.1111/nph.12314