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There are 22935 results for: content related to: Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior

  1. You have free access to this content
    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

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    Trace gas emissions from the production and use of domestic biofuels in Zambia measured by open-path Fourier transform infrared spectroscopy

    Journal of Geophysical Research: Atmospheres (1984–2012)

    Volume 108, Issue D13, 16 July 2003, Isaac T. Bertschi, Robert J. Yokelson, Darold E. Ward, Ted J. Christian and Wei Min Hao

    Article first published online : 13 FEB 2003, DOI: 10.1029/2002JD002158

  3. What Determines Demographic Similarity Between Incumbent CEOs and Their Successors? A CEO Informal Power Perspective

    Managerial and Decision Economics

    Thomas Hutzschenreuter, Ingo Kleindienst and Claas Greger

    Article first published online : 16 JUN 2014, DOI: 10.1002/mde.2679

  4. You have full text access to this OnlineOpen article
    Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

    American Journal of Medical Genetics Part A

    Christopher M. Watson, Laura A. Crinnion, Antigoni Tzika, Alison Mills, Andrea Coates, Maria Pendlebury, Sarah Hewitt, Sally M. Harrison, Catherine Daly, Paul Roberts, Ian M. Carr, Eamonn G. Sheridan and David T. Bonthron

    Article first published online : 16 JUL 2014, DOI: 10.1002/ajmg.a.36679

  5. Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1309–1318, Anthony P.Y. Liu, Wing Fai Tang, Elizabeth T. Lau, Kelvin Y.K. Chan, Anita S.Y. Kan, Kar Yin Wong, Winnie W.Y. Tso, Khair Jalal, So Lun Lee, Christy S.K. Chau and Brian H.Y. Chung

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35909

  6. Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1329–1338, David J. Bunyan, Kevin R. Baker, John F. Harvey and N. Simon Thomas

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35919

  7. Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation

    American Journal of Medical Genetics Part A

    Lucia Pedace, Luigi Laino, Nicoletta Preziosi, Maria Stella Valentini, Salvatore Scommegna, Anna Maria Rapone, Nino Guarino, Brunetto Boscherini, Carmelilia De Bernardo, Giacinto Marrocco, Silvia Majore and Paola Grammatico

    Article first published online : 26 AUG 2014, DOI: 10.1002/ajmg.a.36729

  8. X-linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1414–1420, Lidia Pezzani, Michela Brena, Michele Callea, Marina Colombi and Gianluca Tadini

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35882

  9. The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 1899–1908, Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada, Mari Matsuo, Yuka Suzuki, Kiyoko Sameshima, Reiko Kimura, Yuto Yamamoto, Daisuke Fukushi, Yayoi Fukuhara, Naoko Ishihara, Eriko Nishi, George Imataka, Hiroshi Suzumura, Shin-Ichiro Hamano, Kenji Shimizu, Mie Iwakoshi, Kazunori Ohama, Akira Ohta, Hiroyuki Wakamoto, Mitsuharu Kajita, Kiyokuni Miura, Kenji Yokochi, Kenjiro Kosaki, Tatsuo Kuroda, Rika Kosaki, Yoko Hiraki, Kayoko Saito, Seiji Mizuno, Kenji Kurosawa, Nobuhiko Okamoto and Nobuaki Wakamatsu

    Article first published online : 8 APR 2014, DOI: 10.1002/ajmg.a.36551

  10. Richieri-costa and Pereira syndrome: Severe phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1999–2003, Salmo Raskin, Marcela Souza, Mariana C. Medeiros, Mayra Manfron and Debora C. Chong e Silva

    Article first published online : 21 JUN 2013, DOI: 10.1002/ajmg.a.35989

  11. Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes

    American Journal of Medical Genetics Part A

    Judith G. Hall

    Article first published online : 26 AUG 2014, DOI: 10.1002/ajmg.a.36731

  12. Longitudinal effects of egoistic and fraternal relative deprivation on well-being and protest

    International Journal of Psychology

    Volume 45, Issue 2, April 2010, Pages: 122–130, Manfred Schmitt, Jürgen Maes and Keith Widaman

    Article first published online : 21 OCT 2009, DOI: 10.1080/00207590903165067

  13. Encephalocele—radial, cardiac, gastrointestinal, anal/renal anomalies: Novel evidence for a new condition?

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1085–1091, Carolina M. Valdez, Stephan P.L. Altmayer, McArthur A. Barrow, Jorge A.B. Telles, Rosilene da S. Betat, Paulo R.G. Zen and Rafael F.M. Rosa

    Article first published online : 19 MAR 2014, DOI: 10.1002/ajmg.a.36426

  14. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Tomoki Kosho, Nobuhiko Okamoto and Coffin-Siris Syndrome International Collaborators

    Article first published online : 28 AUG 2014, DOI: 10.1002/ajmg.c.31407

  15. A genome-wide association study of sleep habits and insomnia

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 5, July 2013, Pages: 439–451, Enda M. Byrne, Philip R. Gehrman, Sarah E. Medland, Dale R. Nyholt, Andrew C. Heath, Pamela A. F. Madden, Ian B. Hickie, Cornelia M. Van Duijn, Anjali K. Henders, Grant W. Montgomery, Nicholas G. Martin, Naomi R. Wray and The Chronogen Consortium

    Article first published online : 31 MAY 2013, DOI: 10.1002/ajmg.b.32168

  16. A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1021–1028, Ryoko Fukai, Yoko Hiraki, Gen Nishimura, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naomichi Matsumoto and Noriko Miyake

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36377

  17. Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation

    American Journal of Medical Genetics Part A

    Chloe Quelin, Emmanuel Spaggiari, Suonavy Khung-Savatovsky, Celine Dupont, Laurent Pasquier, Laurence Loeuillet, Sylvie Jaillard, Josette Lucas, Pascale Marcorelles, Hubert Journel, Khantaby Pluquailec-Bilavarn, Anne Bazin, Alain Verloes, Anne-Lise Delezoide, Azzedine Aboura and Fabien Guimiot

    Article first published online : 26 JUN 2014, DOI: 10.1002/ajmg.a.36658

  18. PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2134–2147, Ellen A. Tsai, Micah A. Berman, Laura K. Conlin, Heidi L. Rehm, Lauren J. Francey, Matthew A. Deardorff, Jenelle Holst, Maninder Kaur, Emily Gallant, Dinah M. Clark, Joseph T. Glessner, Shane T. Jensen, Struan F.A. Grant, Peter J. Gruber, Hakon Hakonarson, Nancy B. Spinner and Ian D. Krantz

    Article first published online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36038

  19. Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2378–2384, Vera Ayres Meloni, Roberta Santos Guilherme, Mariana Moyses Oliveira, Michele Migliavacca, Sylvia Satomi Takeno, Nara Lygia Macena Sobreira, Maria de Fatima Faria Soares, Claudia Berlim de Mello and Maria Isabel Melaragno

    Article first published online : 4 JUN 2014, DOI: 10.1002/ajmg.a.36631

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    Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 441–448, P.Y. Billie Au, Bob Argiropoulos, Jillian S. Parboosingh and A. Micheil Innes

    Article first published online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36320