Works matching IS 1552-4825 AND VI 179 AND IP 6 AND DT 2019

Results: 40
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 884, doi. 10.1002/ajmg.a.61157
    Publication type:
    Article
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    Cover Image, Volume 179A, Number 6, June 2019.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. i, doi. 10.1002/ajmg.a.61156
    By:
    • Yamada, Mamiko;
    • Uehara, Tomoko;
    • Suzuki, Hisato;
    • Takenouchi, Toshiki;
    • Yoshihashi, Hiroshi;
    • Suzumura, Hiroshi;
    • Mizuno, Seiji;
    • Kosaki, Kenjiro
    Publication type:
    Article
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    Maladaptive behaviors in individuals with Angelman syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 983, doi. 10.1002/ajmg.a.61140
    By:
    • Sadhwani, Anjali;
    • Willen, Jennifer M.;
    • LaVallee, Nicole;
    • Stepanians, Miganush;
    • Miller, Hillary;
    • Peters, Sarika U.;
    • Barbieri‐Welge, Rene L.;
    • Horowitz, Lucia T.;
    • Noll, Lisa M.;
    • Hundley, Rachel J.;
    • Bird, Lynne M.;
    • Tan, Wen‐Hann
    Publication type:
    Article
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    Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 966, doi. 10.1002/ajmg.a.61134
    By:
    • Kumar, Akash;
    • Zastrow, Diane B.;
    • Kravets, Elijah J.;
    • Beleford, Daniah;
    • Ruzhnikov, Maura R. Z.;
    • Grove, Megan E.;
    • Dries, Annika M.;
    • Kohler, Jennefer N.;
    • Waggott, Daryl M.;
    • Yang, Yaping;
    • Huang, Yong;
    • Mackenzie, Katherine M.;
    • Eng, Christine M.;
    • Fisher, Paul G.;
    • Ashley, Euan A.;
    • Teng, Joyce M.;
    • Stevenson, David A.;
    • Shieh, Joseph T.;
    • Wheeler, Matthew T.;
    • Bernstein, Jonathan A.
    Publication type:
    Article
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    The burden of rare diseases.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 885, doi. 10.1002/ajmg.a.61124
    By:
    • Ferreira, Carlos R.
    Publication type:
    Article
    17

    A Japanese patient with RAD51‐associated Fanconi anemia.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 900, doi. 10.1002/ajmg.a.61130
    By:
    • Takenaka, Satoshi;
    • Kuroda, Yukiko;
    • Ohta, Sayaka;
    • Mizuno, Yoko;
    • Hiwatari, Mitsuteru;
    • Miyatake, Satoko;
    • Matsumoto, Naomichi;
    • Oka, Akira
    Publication type:
    Article
    18

    PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1030, doi. 10.1002/ajmg.a.61127
    By:
    • Bonnemason‐Carrere, Paul;
    • Morice‐Picard, Fanny;
    • Pennamen, Perrine;
    • Arveiler, Benoit;
    • Fergelot, Patricia;
    • Goizet, Cyril;
    • Hellegouarch, Mélanie;
    • Lacombe, Didier;
    • Plaisant, Claudio;
    • Raclet, Virginie;
    • Rooryck, Caroline;
    • Lasseaux, Eulalie;
    • Trimouille, Aurélien
    Publication type:
    Article
    19

    Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 927, doi. 10.1002/ajmg.a.61126
    By:
    • Al‐Dewik, Nader;
    • Mohd, Howaida;
    • Al‐Mureikhi, Mariam;
    • Ali, Rehab;
    • Al‐Mesaifri, Fatma;
    • Mahmoud, Laila;
    • Shahbeck, Noora;
    • El‐Akouri, Karen;
    • Almulla, Mariam;
    • Al Sulaiman, Reem;
    • Musa, Sara;
    • Al‐Marri, Ajayeb Al‐Nabet;
    • Richard, Gabriele;
    • Juusola, Jane;
    • Solomon, Benjamin D.;
    • Alkuraya, Fowzan S.;
    • Ben‐Omran, Tawfeg
    Publication type:
    Article
    20

    First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1091, doi. 10.1002/ajmg.a.61125
    By:
    • Rauen, Katherine A.;
    • Alsaegh, Abeer;
    • Ben‐Shachar, Shay;
    • Berman, Yemima;
    • Blakeley, Jaishri;
    • Cordeiro, Isabel;
    • Elgersma, Ype;
    • Evans, D. Gareth;
    • Fisher, Michael J.;
    • Frayling, Ian M.;
    • George, Joshi;
    • Huson, Susan M.;
    • Kerr, Bronwyn;
    • Khire, Uday;
    • Korf, Bruce;
    • Legius, Eric;
    • Messiaen, Ludwine;
    • van Minkelen, Rick;
    • Nampoothiri, Sheela;
    • Ngeow, Joanne
    Publication type:
    Article
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    CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 915, doi. 10.1002/ajmg.a.61122
    By:
    • Carrera‐García, Laura;
    • Natera‐de Benito, Daniel;
    • Dieterich, Klaus;
    • Banda, Marta G. G.;
    • Felter, Adrien;
    • Inarejos, Emili;
    • Codina, Anna;
    • Jou, Cristina;
    • Roldan, Monica;
    • Palau, Francesc;
    • Hoenicka, Janet;
    • Pijuan, Jordi;
    • Ortez, Carlos;
    • Expósito‐Escudero, Jessica;
    • Durand, Chantal;
    • Nugues, Frédérique;
    • Jimenez‐Mallebrera, Cecilia;
    • Colomer, Jaume;
    • Carlier, Robert Y.;
    • Lochmüller, Hanns
    Publication type:
    Article
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    11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 993, doi. 10.1002/ajmg.a.61113
    By:
    • Conrad, Solène;
    • Demurger, Florence;
    • Moradkhani, Kamran;
    • Pichon, Olivier;
    • Le Caignec, Cédric;
    • Pascal, Cécile;
    • Thomas, Caroline;
    • Bayart, Sophie;
    • Perlat, Antoinette;
    • Dubourg, Christèle;
    • Jaillard, Sylvie;
    • Nizon, Mathilde
    Publication type:
    Article
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    From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1098, doi. 10.1002/ajmg.a.61112
    By:
    • Ferner, Rosalie E.;
    • Bakker, Annette;
    • Elgersma, Ype;
    • Evans, D. Gareth R.;
    • Giovannini, Marco;
    • Legius, Eric;
    • Lloyd, Alison;
    • Messiaen, Ludwine M.;
    • Plotkin, Scott;
    • Reilly, Karlyne M.;
    • Schindeler, Aaron;
    • Smith, Miriam J.;
    • Ullrich, Nicole J.;
    • Widemann, Brigitte;
    • Sherman, Larry S.
    Publication type:
    Article
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    Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1080, doi. 10.1002/ajmg.a.61108
    By:
    • Kline, Antonie D.;
    • Krantz, Ian D.;
    • Bando, Masashige;
    • Shirahige, Katsuhiko;
    • Chea, Stephenson;
    • Sakata, Toyonori;
    • Rao, Suhas;
    • Dorsett, Dale;
    • Singh, Vijay Pratap;
    • Gerton, Jennifer L.;
    • Horsfield, Julia A.;
    • Calof, Anne L.;
    • Katz, Olivia;
    • Grados, Marco;
    • Raible, Sarah;
    • Barañano, Kristin;
    • Lyon, Gholson;
    • Musio, Antonio;
    • Carrico, Cheri S.;
    • Clemens, Douglas K.
    Publication type:
    Article
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    Publication schedule for 2019.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 880, doi. 10.1002/ajmg.a.40449
    Publication type:
    Article
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