Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 1

Results: 48
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    Trends in occurrence of twin births in Japan.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 75, doi. 10.1002/ajmg.a.34362
    By:
    • Kurosawa, Kenji;
    • Masuno, Mitsuo;
    • Kuroki, Yoshikazu
    Publication type:
    Article
    3

    MBTPS2 mutation causes BRESEK/BRESHECK syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 97, doi. 10.1002/ajmg.a.34373
    By:
    • Naiki, Misako;
    • Mizuno, Seiji;
    • Yamada, Kenichiro;
    • Yamada, Yasukazu;
    • Kimura, Reiko;
    • Oshiro, Makoto;
    • Okamoto, Nobuhiko;
    • Makita, Yoshio;
    • Seishima, Mariko;
    • Wakamatsu, Nobuaki
    Publication type:
    Article
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    Auriculo-condylar syndrome. Confronting a diagnostic challenge.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 59, doi. 10.1002/ajmg.a.34337
    By:
    • Kokitsu-Nakata, Nancy Mizue;
    • Zechi-Ceide, Roseli Maria;
    • Vendramini-Pittoli, Siulan;
    • Romanelli Tavares, Vanessa Luiza;
    • Passos-Bueno, Maria Rita;
    • Guion-Almeida, Maria Leine
    Publication type:
    Article
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    CDKN1C mutations and genital anomalies.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 265, doi. 10.1002/ajmg.a.34388
    By:
    • Welsh, Holly I.;
    • Stockley, Tracy L.;
    • Parkinson, Nicole;
    • Ardinger, Holly H.
    Publication type:
    Article
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    Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.

    Published in:
    2012
    By:
    • Blakeley, Jaishri O.;
    • Evans, D. Gareth;
    • Adler, John;
    • Brackmann, Derald;
    • Chen, Ruihong;
    • Ferner, Rosalie E.;
    • Hanemann, C. Oliver;
    • Harris, Gordon;
    • Huson, Susan M.;
    • Jacob, Abraham;
    • Kalamarides, Michel;
    • Karajannis, Matthias A.;
    • Korf, Bruce R.;
    • Mautner, Victor-Felix;
    • McClatchey, Andrea I.;
    • Miao, Harry;
    • Plotkin, Scott R.;
    • Slattery, William;
    • Stemmer-Rachamimov, Anat O.;
    • Welling, D. Bradley
    Publication type:
    Other
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    Phenotype of FOXP2 haploinsufficiency in a mother and son.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 174, doi. 10.1002/ajmg.a.34354
    By:
    • Rice, Gregory M.;
    • Raca, Gordana;
    • Jakielski, Kathy J.;
    • Laffin, Jennifer J.;
    • Iyama-Kurtycz, Christina M.;
    • Hartley, Sigan L.;
    • Sprague, Rae E.;
    • Heintzelman, Anne T.;
    • Shriberg, Lawrence D.
    Publication type:
    Article
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    Renal anomalies in Alagille syndrome: A disease-defining feature.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 85, doi. 10.1002/ajmg.a.34369
    By:
    • Kamath, Binita M.;
    • Podkameni, Gisele;
    • Hutchinson, Anne L.;
    • Leonard, Laura D.;
    • Gerfen, Jennifer;
    • Krantz, Ian D.;
    • Piccoli, David A.;
    • Spinner, Nancy B.;
    • Loomes, Kathleen M.;
    • Meyers, Kevin
    Publication type:
    Article
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    Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 206, doi. 10.1002/ajmg.a.34364
    By:
    • Tirado, Carlos A.;
    • Gotway, Garrett;
    • Torgbe, Emmanuel;
    • Iyer, Santha;
    • Dallaire, Stephanie;
    • Appleberry, Taylor;
    • Suterwala, Mohamed;
    • Garcia, Rolando;
    • Valdez, Federico;
    • Patel, Sangeeta;
    • Koduru, Prasad
    Publication type:
    Article
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    Duplication of the ZIC2 gene is not associated with holoprosencephaly.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 103, doi. 10.1002/ajmg.a.34375
    By:
    • Jobanputra, Vaidehi;
    • Burke, Alanna;
    • Kwame, Anyane-Yeboa;
    • Shanmugham, Anita;
    • Shirazi, Maryam;
    • Brown, Stephen;
    • Warburton, Peter E.;
    • Levy, Brynn;
    • Warburton, Dorothy
    Publication type:
    Article
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    Familial Poland anomaly revisited.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 140, doi. 10.1002/ajmg.a.34370
    By:
    • Baban, Anwar;
    • Torre, Michele;
    • Costanzo, Sara;
    • Gimelli, Stefania;
    • Bianca, Sebastiano;
    • Divizia, Maria Teresa;
    • Sénès, Filippo Maria;
    • Garavelli, Livia;
    • Rivieri, Francesca;
    • Lerone, Margherita;
    • Valle, Maura;
    • Ravazzolo, Roberto;
    • Calevo, Maria Grazia
    Publication type:
    Article
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    Microtia: Epidemiology and genetics.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 124, doi. 10.1002/ajmg.a.34352
    By:
    • Luquetti, Daniela V.;
    • Heike, Carrie L.;
    • Hing, Anne V.;
    • Cunningham, Michael L.;
    • Cox, Timothy C.
    Publication type:
    Article
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