Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 7

Results: 48
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1551, doi. 10.1002/ajmg.a.61727
    Publication type:
    Article
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    Going forward in a new world.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1553, doi. 10.1002/ajmg.a.61715
    By:
    • Slavotinek, Anne M.;
    • Solomon, Benjamin D.
    Publication type:
    Article
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    Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1704, doi. 10.1002/ajmg.a.61627
    By:
    • Doser, Karoline;
    • Andersen, Elisabeth Wreford;
    • Kenborg, Line;
    • Dalton, Susanne Oksbjerg;
    • Jepsen, Jens Richardt Møllegaard;
    • Krøyer, Anja;
    • Østergaard, John;
    • Hove, Hanne;
    • Sørensen, Sven Asger;
    • Johansen, Christoffer;
    • Mulvihill, John;
    • Winther, Jeanette Falck;
    • Bidstrup, Pernille Envold
    Publication type:
    Article
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    Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1576, doi. 10.1002/ajmg.a.61615
    By:
    • Wenger, Tara L.;
    • Bly, Randall A.;
    • Wu, Natalie;
    • Albert, Catherine M.;
    • Park, Julie;
    • Shieh, Joseph;
    • Chenbhanich, Jirat;
    • Heike, Carrie L.;
    • Adam, Margaret P.;
    • Chang, Irene;
    • Sun, Angela;
    • Miller, Danny E.;
    • Beck, Anita E.;
    • Gupta, Deepti;
    • Boos, Markus D.;
    • Zackai, Elaine H.;
    • Everman, David;
    • Ganapathi, Shireen;
    • Wilson, Meredith;
    • Christodoulou, John
    Publication type:
    Article
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    Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1681, doi. 10.1002/ajmg.a.61610
    By:
    • Kunz, Felix;
    • Kayserili, Hülya;
    • Midro, Alina;
    • Silva, Deepthi;
    • Basnayake, Sriyani;
    • Güven, Yeliz;
    • Borys, Jan;
    • Schanze, Denny;
    • Stellzig‐Eisenhauer, Angelika;
    • Bloch‐Zupan, Agnes;
    • Zenker, Martin
    Publication type:
    Article
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    KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1664, doi. 10.1002/ajmg.a.61607
    By:
    • Al Dhaheri, Noura;
    • Wu, Nan;
    • Zhao, Sen;
    • Wu, Zhihong;
    • Blank, Robert D.;
    • Zhang, Jianguo;
    • Raggio, Cathy;
    • Halanski, Matthew;
    • Shen, Jianxiong;
    • Noonan, Ken;
    • Qiu, Guixing;
    • Nemeth, Blaise;
    • Sund, Sarah;
    • Dunwoodie, Sally L.;
    • Chapman, Gavin;
    • Glurich, Ingrid;
    • Steiner, Robert D.;
    • Wohler, Elizabeth;
    • Martin, Renan;
    • Sobreira, Nara Lygia
    Publication type:
    Article
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    Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1637, doi. 10.1002/ajmg.a.61599
    By:
    • Durkin, Anna;
    • Albaba, Shadi;
    • Fry, Andrew E.;
    • Morton, Jenny E.;
    • Douglas, Andrew;
    • Beleza, Ana;
    • Williams, Denise;
    • Volker‐Touw, Catharina M.L.;
    • Lynch, Sally A.;
    • Canham, Natalie;
    • Clowes, Virginia;
    • Straub, Volker;
    • Lachlan, Katherine;
    • Gibbon, Frances;
    • El Gamal, Mayy;
    • Varghese, Vinod;
    • Parker, Michael J.;
    • Newbury‐Ecob, Ruth;
    • Turnpenny, Peter D.;
    • Gardham, Alice
    Publication type:
    Article
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    Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1767, doi. 10.1002/ajmg.a.61597
    By:
    • Lacassie, Yves;
    • Johnson, Britt;
    • Lay‐Son, Guillermo;
    • Quintana, Rita;
    • King, Andrew;
    • Cortes, Fanny;
    • Alvarez, Cecilia;
    • Gomez, Ricardo;
    • Vargas, Alfonso;
    • Chalew, Stuart;
    • King, Alejandra;
    • Guardia, Sylvia;
    • Sorensen, Ricardo U.;
    • Aradhya, Swaroop
    Publication type:
    Article
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    Aortic dilation in Sotos syndrome: An underestimated feature?

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1819, doi. 10.1002/ajmg.a.61591
    By:
    • Pezzani, Lidia;
    • Mauri, Lucia;
    • Selicorni, Angelo;
    • Peron, Angela;
    • Grasso, Marina;
    • Codazzi, Alessia C.;
    • Rimini, Alessandro;
    • Marchisio, Paola G.;
    • Coviello, Domenico;
    • Colli, Anna;
    • Milani, Donatella
    Publication type:
    Article
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    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1547, doi. 10.1002/ajmg.a.61237
    Publication type:
    Article
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