Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 8

Results: 41
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    Sleep profiles in children with down syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1830, doi. 10.1002/ajmg.a.37096
    By:
    • Bassell, Julia L.;
    • Phan, Han;
    • Leu, Roberta;
    • Kronk, Rebecca;
    • Visootsak, Jeannie
    Publication type:
    Article
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    Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1763, doi. 10.1002/ajmg.a.37081
    By:
    • Stembridge, Natasha S.;
    • Vandersteen, Anthony M.;
    • Ghali, Neeti;
    • Sawle, Philip;
    • Nesbitt, Mandy;
    • Pollitt, Rebecca C.;
    • Ferguson, David J. P.;
    • Holden, Simon;
    • Elmslie, Frances;
    • Henderson, Alex;
    • Hulmes, David J. S.;
    • Pope, F.Michael
    Publication type:
    Article
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    Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1902, doi. 10.1002/ajmg.a.37082
    By:
    • Garavelli, Livia;
    • Cordeddu, Viviana;
    • Errico, Stefania;
    • Bertolini, Patrizia;
    • Street, Maria Elisabeth;
    • Rosato, Simonetta;
    • Pollazzon, Marzia;
    • Wischmeijer, Anita;
    • Ivanovski, Ivan;
    • Daniele, Paola;
    • Bacchini, Ermanno;
    • Lombardi, Alfonsa Anna;
    • Izzi, Giancarlo;
    • Biasucci, Giacomo;
    • Del Rossi, Carmine;
    • Corradi, Domenico;
    • Cazzaniga, Giovanni;
    • Dominici, Carlo;
    • Rossi, Cesare;
    • De Luca, Alessandro
    Publication type:
    Article
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    Ataxia-telangiectasia with female fertility.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1937, doi. 10.1002/ajmg.a.37084
    By:
    • Dawson, Angelika J.;
    • Marles, Sandra;
    • Tomiuk, Michelle;
    • Riordan, Diane;
    • Gatti, Richard A.
    Publication type:
    Article
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    Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1747, doi. 10.1002/ajmg.a.37085
    By:
    • Wooderchak‐Donahue, Whitney;
    • VanSant‐Webb, Chad;
    • Tvrdik, Tatiana;
    • Plant, Parker;
    • Lewis, Tracey;
    • Stocks, Jennifer;
    • Raney, Joshua A.;
    • Meyers, Lindsay;
    • Berg, Alizabeth;
    • Rope, Alan F.;
    • Yetman, Anji T.;
    • Bleyl, Steven B.;
    • Mesley, Rebecca;
    • Bull, David A.;
    • Collins, R. Thomas;
    • Ojeda, Mayra Martinez;
    • Roberts, Amy;
    • Lacro, Ronald;
    • Woerner, Audrey;
    • Stoler, Joan
    Publication type:
    Article
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    The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1741, doi. 10.1002/ajmg.a.37089
    By:
    • Korf, Bruce;
    • Ahmadian, Reza;
    • Allanson, Judith;
    • Aoki, Yoko;
    • Bakker, Annette;
    • Wright, Emma Burkitt;
    • Denger, Brian;
    • Elgersma, Ype;
    • Gelb, Bruce D.;
    • Gripp, Karen W.;
    • Kerr, Bronwyn;
    • Kontaridis, Maria;
    • Lazaro, Conxi;
    • Linardic, Corinne;
    • Lozano, Reymundo;
    • MacRae, Calum A.;
    • Messiaen, Ludwine;
    • Mulero‐Navarro, Sonia;
    • Neel, Benjamin;
    • Plotkin, Scott
    Publication type:
    Article
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    Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1851, doi. 10.1002/ajmg.a.37101
    By:
    • Hyon, Capucine;
    • Chantot‐Bastaraud, Sandra;
    • Harbuz, Radu;
    • Bhouri, Rakia;
    • Perrot, Nicolas;
    • Peycelon, Matthieu;
    • Sibony, Mathilde;
    • Rojo, Sandra;
    • Piguel, Xavier;
    • Bilan, Frederic;
    • Gilbert‐Dussardier, Brigitte;
    • Kitzis, Alain;
    • McElreavey, Ken;
    • Siffroi, Jean‐Pierre;
    • Bashamboo, Anu
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. ix, doi. 10.1002/ajmg.a.37243
    Publication type:
    Article
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    Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1884, doi. 10.1002/ajmg.a.37076
    By:
    • Tan, Ratna N. G. B.;
    • Witlox, Ruben S. G. M.;
    • Hilhorst‐Hofstee, Yvonne;
    • Peeters‐Scholte, Cacha M. P. C. D.;
    • den Hollander, Nicolette S.;
    • Ruivenkamp, Claudia A. L.;
    • Hoffer, Mariëtte J.V.;
    • Hansson, Kerstin B.;
    • van Roosmalen, Mark J.;
    • Kloosterman, Wigard P.;
    • Santen, Gijs W. E.
    Publication type:
    Article
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    12q21.2q22 deletion: A new patient.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1877, doi. 10.1002/ajmg.a.37077
    By:
    • Oliveira, Renata;
    • Pereira, Cristina;
    • Melo, Joana B.;
    • Mesquita, Sandra;
    • Venâncio, Margarida;
    • Carreira, Isabel Marques;
    • Saraiva, Jorge
    Publication type:
    Article
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