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There are 38459 results for: content related to: 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

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    Elements of morphology: Standard terminology for the external genitalia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1238–1263, Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain

    Article first published online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

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    Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1221–1237, Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki, Yoko Imai, Yumiko Hibi-Ko, Hiroshi Kawame, Tomomi Homma, Saori Tanabe, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Tohru Ohta, Norio Niikawa, Seiji Mizuno, Tadashi Kaname, Kenji Naritomi, Yoko Narumi, Keiko Wakui, Yoshimitsu Fukushima, Satoko Miyatake, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35933

  3. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1354–1369, José A. Caparrós-Martin, María Valencia, Veronica Pulido, Victor Martínez-Glez, Inmaculada Rueda-Arenas, Khalda Amr, Chantal Farra, Pablo Lapunzina, Victor L. Ruiz-Perez, Samia Temtamy and Mona Aglan

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35938

  4. Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1695–1701, Jia-Chi Wang, Mary Vaccarello-Cruz, Leslie Ross, Renius Owen, Victoria M. Pratt, Katherine Lightman, Yan Liu, Katayoun Hafezi, Dhia Cherif and Dr. Trilochan Sahoo

    Article first published online : 17 MAY 2013, DOI: 10.1002/ajmg.a.35939

  5. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1833–1852, Cynthia J. Curry, Jill A. Rosenfeld, Erica Grant, Karen W. Gripp, Carol Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, Michelle Falco, Christina Fels, Marco Fichera, Jesper Graakjaer, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene Huggins, Roger Ladda, Chumei Li, John Moeschler, Malgorzata J.M. Nowaczyk, Jillian R. Ozmore, Santina Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark Tarnopolsky, Raymond Tervo, Anne Chun-Hui Tsai, Megan Tucker, Stephanie Vallee, Ferrin C Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer and William B. Dobyns

    Article first published online : 27 JUN 2013, DOI: 10.1002/ajmg.a.35996

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    Characterization of site-specific GPS errors using a short-baseline network of braced monuments at Yucca Mountain, southern Nevada

    Journal of Geophysical Research: Solid Earth (1978–2012)

    Volume 114, Issue B11, November 2009, Emma M. Hill, James L. Davis, Pedro Elósegui, Brian P. Wernicke, Eric Malikowski and Nathan A. Niemi

    Article first published online : 5 NOV 2009, DOI: 10.1029/2008JB006027

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    A 10 year climatology of cloud fraction and vertical distribution derived from both surface and GOES observations over the DOE ARM SPG site

    Journal of Geophysical Research: Atmospheres (1984–2012)

    Volume 115, Issue D12, 27 June 2010, Baike Xi, Xiquan Dong, Patrick Minnis and Mandana M. Khaiyer

    Article first published online : 29 JUN 2010, DOI: 10.1029/2009JD012800

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    Constitutive equations for coupled flows in clay materials

    Water Resources Research

    Volume 47, Issue 5, May 2011, A. Revil, W. F. Woodruff and N. Lu

    Article first published online : 28 MAY 2011, DOI: 10.1029/2010WR010002

  9. Herschel-ATLAS: multi-wavelength SEDs and physical properties of 250 μm selected galaxies at z < 0.5

    Monthly Notices of the Royal Astronomical Society

    Volume 427, Issue 1, 21 November 2012, Pages: 703–727, D. J. B. Smith, L. Dunne, E. da Cunha, K. Rowlands, S. J. Maddox, H. L. Gomez, D. G. Bonfield, S. Charlot, S. P. Driver, C. C. Popescu, R. J. Tuffs, J. S. Dunlop, M. J. Jarvis, N. Seymour, M. Symeonidis, M. Baes, N. Bourne, D. L. Clements, A. Cooray, G. De Zotti, S. Dye, S. Eales, D. Scott, A. Verma, P. van der Werf, E. Andrae, R. Auld, S. Buttiglione, A. Cava, A. Dariush, J. Fritz, R. Hopwood, E. Ibar, R. J. Ivison, L. Kelvin, B. F. Madore, M. Pohlen, E. E. Rigby, A. Robotham, M. Seibert and P. Temi

    Article first published online : 2 NOV 2012, DOI: 10.1111/j.1365-2966.2012.21930.x

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    Influence of the scar geometry on landslide dynamics and deposits: Application to Martian landslides

    Journal of Geophysical Research: Planets (1991–2012)

    Volume 116, Issue E10, October 2011, Antoine Lucas, Anne Mangeney, Daniel Mège and François Bouchut

    Article first published online : 4 OCT 2011, DOI: 10.1029/2011JE003803

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    Experiments on dispersion of tracer stones under lower-regime plane-bed equilibrium bed load transport

    Water Resources Research

    Volume 43, Issue 3, March 2007, Miguel Wong, Gary Parker, Paul DeVries, Timothy M. Brown and Stephen J. Burges

    Article first published online : 30 MAR 2007, DOI: 10.1029/2006WR005172

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    Analysis of the PLL phase error in presence of simulated ionospheric scintillation events

    Radio Science

    Volume 47, Issue 3, June 2012, B. Forte

    Article first published online : 18 MAY 2012, DOI: 10.1029/2011RS004790

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    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Article first published online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

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    Grenville Front zone, Gagnon terrane, southwestern Labrador: Configuration of a midcrustal foreland fold-thrust belt

    Tectonics

    Volume 27, Issue 1, February 2008, J. A. M. van Gool, T. Rivers and Tom Calon

    Article first published online : 15 JAN 2008, DOI: 10.1029/2006TC002095

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    Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1531–1542, Tomoki Kosho, Hideo Kuniba, Yuko Tanikawa, Yoko Hashimoto and Hiroko Sakurai

    Article first published online : 29 MAY 2013, DOI: 10.1002/ajmg.a.35990

  16. Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1345–1353, Kelly N. Evans, Joseph S. Gruss, Paritosh C. Khanna, Michael L. Cunningham, Timothy C. Cox and Anne V. Hing

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35926

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    An ecosystem model of the global ocean including Fe, Si, P colimitations

    Global Biogeochemical Cycles

    Volume 17, Issue 2, June 2003, Olivier Aumont, Ernst Maier-Reimer, Stéphane Blain and P. Monfray

    Article first published online : 4 JUN 2003, DOI: 10.1029/2001GB001745

  18. Oculo-Auriculo-Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement

    American Journal of Medical Genetics Part A

    Erin E. Torti, Stephen R. Braddock, Kristen Bernreuter and Jacqueline R. Batanian

    Article first published online : 29 MAR 2013, DOI: 10.1002/j.1552-4833.2013.35918.x

  19. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1992–1998, Erin E. Torti, Stephen R. Braddock, Kristen Bernreuter and Jacqueline R. Batanian

    Article first published online : 24 JUL 2013, DOI: 10.1002/ajmg.a.35918

  20. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1950–1960, Elena Vallespín, María Palomares Bralo, M. Ángeles Mori, Rubén Martín, Sixto García-Miñaúr, Luis Fernández, M. Luisa de Torres, Fe García-Santiago, Elena Mansilla, Fernando Santos, Victoria E. M-Montaño, M. Carmen Crespo, Sol Martín, Victor Martínez-Glez, Alicia Delicado, Pablo Lapunzina and Julián Nevado

    Article first published online : 24 JUN 2013, DOI: 10.1002/ajmg.a.35960