Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 2

Results: 44
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    Cover Image, Volume 173A, Number 2, February 2017.

    Published in:
    2017
    By:
    • Maussion, Gilles;
    • Cruceanu, Cristiana;
    • Rosenfeld, Jill A.;
    • Bell, Scott C.;
    • Jollant, Fabrice;
    • Szatkiewicz, Jin;
    • Collins, Ryan L.;
    • Hanscom, Carrie;
    • Kolobova, Ilaria;
    • de Champfleur, Nicolas Menjot;
    • Blumenthal, Ian;
    • Chiang, Colby;
    • Ota, Vanessa;
    • Hultman, Christina;
    • O'Dushlaine, Colm;
    • McCarroll, Steve;
    • Alda, Martin;
    • Jacquemont, Sebastien;
    • Ordulu, Zehra;
    • Marshall, Christian R.
    Publication type:
    Other
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    Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 360, doi. 10.1002/ajmg.a.38011
    By:
    • Toda, Naoko;
    • Ihara, Kenji;
    • Kojima‐Ishii, Kanako;
    • Ochiai, Masayuki;
    • Ohkubo, Kazuhiro;
    • Kawamoto, Yutaka;
    • Kohno, Yoshinori;
    • Kumasaka, Sakae;
    • Kawase, Akihiko;
    • Ueno, Yasuhisa;
    • Futatani, Takeshi;
    • Miyazawa, Tokuo;
    • Nagaoki, Yuko;
    • Nakata, Setsuko;
    • Misaki, Maiko;
    • Arai, Hiroko;
    • Kawai, Masahiko;
    • Sato, Maki;
    • Yada, Yukari;
    • Takahashi, Nobuhiro
    Publication type:
    Article
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    Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 495, doi. 10.1002/ajmg.a.38020
    By:
    • Murakoshi, Miki;
    • Takasawa, Kei;
    • Nishioka, Masato;
    • Asakawa, Masahiro;
    • Kashimada, Kenichi;
    • Yoshimoto, Takanobu;
    • Yamamoto, Toshiyuki;
    • Takekoshi, Kazuhiro;
    • Ogawa, Yoshihiro;
    • Shimohira, Masayuki
    Publication type:
    Article
    17

    Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 395, doi. 10.1002/ajmg.a.38021
    By:
    • Maussion, Gilles;
    • Cruceanu, Cristiana;
    • Rosenfeld, Jill A.;
    • Bell, Scott C.;
    • Jollant, Fabrice;
    • Szatkiewicz, Jin;
    • Collins, Ryan L.;
    • Hanscom, Carrie;
    • Kolobova, Ilaria;
    • de Champfleur, Nicolas Menjot;
    • Blumenthal, Ian;
    • Chiang, Colby;
    • Ota, Vanessa;
    • Hultman, Christina;
    • O'Dushlaine, Colm;
    • McCarroll, Steve;
    • Alda, Martin;
    • Jacquemont, Sebastien;
    • Ordulu, Zehra;
    • Marshall, Christian R.
    Publication type:
    Article
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    20

    Creation of an international registry to support discovery in schwannomatosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 407, doi. 10.1002/ajmg.a.38024
    By:
    • Ostrow, K. L.;
    • Bergner, A. L.;
    • Blakeley, J.;
    • Evans, D. G.;
    • Ferner, R.;
    • Friedman, J. M.;
    • Harris, G. J.;
    • Jordan, J. T.;
    • Korf, B.;
    • Langmead, S.;
    • Leschziner, G.;
    • Mautner, V.;
    • Merker, V. L.;
    • Papi, L.;
    • Plotkin, S. R.;
    • Slopis, J. M.;
    • Smith, M. J.;
    • Stemmer‐Rachamimov, A.;
    • Yohay, K.;
    • Belzberg, A. J.
    Publication type:
    Article
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    Camptodactyly and the 22q11.2 deletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 515, doi. 10.1002/ajmg.a.38029
    By:
    • Couser, Natario L.;
    • Pande, Chetna K.;
    • Walsh, Jonathan M.;
    • Tepperberg, James;
    • Aylsworth, Arthur S.
    Publication type:
    Article
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    Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 519, doi. 10.1002/ajmg.a.38033
    By:
    • Baas, Annette F.;
    • Spiering, Wilko;
    • Moll, Frans L.;
    • Page‐Christiaens, Lieve;
    • Beenakkers, Ingrid C. M.;
    • Dooijes, Dennis;
    • Vonken, Evert‐Jan P. A.;
    • van der Smagt, Jasper J.;
    • Knoers, Nine V.;
    • Koenen, Steven V.;
    • van Herwaarden, Joost A.;
    • Sieswerda, Gertjan Tj.
    Publication type:
    Article
    28

    De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 435, doi. 10.1002/ajmg.a.38034
    By:
    • Dennert, Nicola;
    • Engels, Hartmut;
    • Cremer, Kirsten;
    • Becker, Jessica;
    • Wohlleber, Eva;
    • Albrecht, Beate;
    • Ehret, Julia K.;
    • Lüdecke, Hermann‐Josef;
    • Suri, Mohnish;
    • Carignani, Giulia;
    • Renieri, Alessandra;
    • Kukuk, Guido M.;
    • Wieland, Thomas;
    • Andrieux, Joris;
    • Strom, Tim M.;
    • Wieczorek, Dagmar;
    • Dieux‐Coëslier, Anne;
    • Zink, Alexander M.
    Publication type:
    Article
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    Trisomy 18 and eye anomalies.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 553, doi. 10.1002/ajmg.a.38036
    By:
    • Correia, Jamile D.;
    • da Rosa, Ernani B.;
    • Silveira, Daniélle B.;
    • Correia, Elisa P. E.;
    • Lorenzen, Marina B.;
    • Travi, Giovanni M.;
    • Rosa, Rosana C. M.;
    • Zen, Paulo R. G.;
    • Zen, Tatiana D.;
    • Rosa, Rafael F. M.
    Publication type:
    Article
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    A novel recurrent LIS1 splice site mutation in classic lissencephaly.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 561, doi. 10.1002/ajmg.a.38041
    By:
    • Philbert, Marion;
    • Maillard, Camille;
    • Cavallin, Mara;
    • Goldenberg, Alice;
    • Masson, Cecile;
    • Boddaert, Nathalie;
    • El Morjani, Adrienne;
    • Steffann, Julie;
    • Chelly, Jamel;
    • Gerard, Xavier;
    • Bahi‐Buisson, Nadia
    Publication type:
    Article
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    Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 531, doi. 10.1002/ajmg.a.38045
    By:
    • Baurand, Amandine;
    • Falcon‐Eicher, Sylvie;
    • Laurent, Gabriel;
    • Villain, Elisabeth;
    • Bonnet, Caroline;
    • Thauvin‐Robinet, Christel;
    • Jacquot, Caroline;
    • Eicher, Jean‐Christophe;
    • Gourraud, Jean‐Baptiste;
    • Schmitt, Sébastien;
    • Bézieau, Stéphane;
    • Giraud, Mathilde;
    • Dumont, Solenne;
    • Kuentz, Paul;
    • Probst, Vincent;
    • Burguet, Antoine;
    • Kyndt, Florence;
    • Faivre, Laurence
    Publication type:
    Article
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    Novel EED mutation in patient with Weaver syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 541, doi. 10.1002/ajmg.a.38055
    By:
    • Cooney, Erin;
    • Bi, Weimin;
    • Schlesinger, Alan E.;
    • Vinson, Sherry;
    • Potocki, Lorraine
    Publication type:
    Article
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