Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 8

Results: 37
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    Phenotypes and genotypes in individuals with SMC1A variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2108, doi. 10.1002/ajmg.a.38279
    By:
    • Huisman, Sylvia;
    • Mulder, Paul A.;
    • Redeker, Egbert;
    • Bader, Ingrid;
    • Bisgaard, Anne‐Marie;
    • Brooks, Alice;
    • Cereda, Anna;
    • Cinca, Constanza;
    • Clark, Dinah;
    • Cormier‐Daire, Valerie;
    • Deardorff, Matthew A.;
    • Diderich, Karin;
    • Elting, Mariet;
    • van Essen, Anthonie;
    • FitzPatrick, David;
    • Gervasini, Cristina;
    • Gillessen‐Kaesbach, Gabriele;
    • Girisha, Katta M.;
    • Hilhorst‐Hofstee, Yvonne;
    • Hopman, Saskia
    Publication type:
    Article
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    A tumor profile in Patau syndrome (trisomy 13).

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2088, doi. 10.1002/ajmg.a.38294
    By:
    • Satgé, Daniel;
    • Nishi, Motoi;
    • Sirvent, Nicolas;
    • Vekemans, Michel;
    • Chenard, Marie‐Pierre;
    • Barnes, Ann
    Publication type:
    Article
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    Normal IQ is possible in Smith-Lemli-Opitz syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2097, doi. 10.1002/ajmg.a.38125
    By:
    • Eroglu, Yasemen;
    • Nguyen‐Driver, Mina;
    • Steiner, Robert D.;
    • Merkens, Louise;
    • Merkens, Mark;
    • Roullet, Jean‐Baptiste;
    • Elias, Ellen;
    • Sarphare, Geeta;
    • Porter, Forbes D.;
    • Li, Chumei;
    • Tierney, Elaine;
    • Nowaczyk, Małgorzata J.;
    • Freeman, Kurt A.
    Publication type:
    Article
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    Co-occurrence of Jalili syndrome and muscular overgrowth.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2280, doi. 10.1002/ajmg.a.38318
    By:
    • Wawrocka, Anna;
    • Walczak‐Sztulpa, Joanna;
    • Badura‐Stronka, Magdalena;
    • Owecki, Michal;
    • Kopczynski, Przemysław;
    • Mrukwa‐Kominek, Ewa;
    • Skorczyk‐Werner, Anna;
    • Gasperowicz, Piotr;
    • Ploski, Rafal;
    • Krawczynski, Maciej R.
    Publication type:
    Article
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    A mutation in GABRB3 associated with Dravet syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2126, doi. 10.1002/ajmg.a.38282
    By:
    • Le, Sy Vinh;
    • Le, Phan Hoang Truc;
    • Le, Thi Khanh Van;
    • Kieu Huynh, Thi Thuy;
    • Hang Do, Thi Thu
    Publication type:
    Article
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    Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
    By:
    • Lévy, Jonathan;
    • Coussement, Aurélie;
    • Dupont, Céline;
    • Guimiot, Fabien;
    • Baumann, Clarisse;
    • Viot, Géraldine;
    • Passemard, Sandrine;
    • Capri, Yline;
    • Drunat, Séverine;
    • Verloes, Alain;
    • Pipiras, Eva;
    • Benzacken, Brigitte;
    • Dupont, Jean‐Michel;
    • Tabet, Anne‐Claude
    Publication type:
    Article
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    Neuroradiographic findings in 22q11.2 deletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2158, doi. 10.1002/ajmg.a.38304
    By:
    • Bohm, Lauren A.;
    • Zhou, Tom C.;
    • Mingo, Tyler J.;
    • Dugan, Sarah L.;
    • Patterson, Richard J.;
    • Sidman, James D.;
    • Roby, Brianne B.
    Publication type:
    Article
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    Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2176, doi. 10.1002/ajmg.a.38309
    By:
    • Hanchard, Neil A.;
    • Umana, Luis A.;
    • D'Alessandro, Lisa;
    • Azamian, Mahshid;
    • Poopola, Mojisola;
    • Morris, Shaine A.;
    • Fernbach, Susan;
    • Lalani, Seema R.;
    • Towbin, Jeffrey A.;
    • Zender, Gloria A.;
    • Fitzgerald‐Butt, Sara;
    • Garg, Vidu;
    • Bowman, Jessica;
    • Zapata, Gladys;
    • Hernandez, Patricia;
    • Arrington, Cammon B.;
    • Furthner, Dieter;
    • Prakash, Siddharth K.;
    • Bowles, Neil E.;
    • McBride, Kim L.
    Publication type:
    Article