Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 8

Results: 46
    1

    Risk of sudden cardiac death in EXOSC5‐related disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
    By:
    • Calame, Daniel G.;
    • Herman, Isabella;
    • Fatih, Jawid M.;
    • Du, Haowei;
    • Akay, Gulsen;
    • Jhangiani, Shalini N.;
    • Coban‐Akdemir, Zeynep;
    • Milewicz, Dianna M.;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.;
    • Marafi, Dana;
    • Hunter, Jill V.;
    • Fan, Yuxin;
    • Lupski, James R.;
    • Miyake, Christina Y.
    Publication type:
    Article
    2

    Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2445, doi. 10.1002/ajmg.a.62350
    By:
    • Poole, Rebecca L.;
    • Curry, Philippa D. K.;
    • Marcinkute, Ruta;
    • Brewer, Carole;
    • Coman, David;
    • Hobson, Emma;
    • Johnson, Diana;
    • Lynch, Sally Ann;
    • Saggar, Anand;
    • Searle, Claire;
    • Scurr, Ingrid;
    • Turnpenny, Peter D.;
    • Vasudevan, Pradeep;
    • Tatton‐Brown, Katrina
    Publication type:
    Article
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    TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2417, doi. 10.1002/ajmg.a.62347
    By:
    • Bowles, Bradley;
    • Ferrer, Alejandro;
    • Nishimura, Carla J.;
    • Pinto e Vairo, Filippo;
    • Rey, Tristan;
    • Leheup, Bruno;
    • Sullivan, Jennifer;
    • Schoch, Kelly;
    • Stong, Nicholas;
    • Agolini, Emanuele;
    • Cocciadiferro, Dario;
    • Williams, Abigail;
    • Cummings, Alex;
    • Loddo, Sara;
    • Genovese, Silvia;
    • Roadhouse, Chelsea;
    • McWalter, Kirsty;
    • Wentzensen, Ingrid M.;
    • Li, Chumei;
    • Babovic‐Vuksanovic, Dusica
    Publication type:
    Article
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    Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2561, doi. 10.1002/ajmg.a.62338
    By:
    • Marinakis, Nikolaos M.;
    • Svingou, Maria;
    • Veltra, Danai;
    • Kekou, Kyriaki;
    • Sofocleous, Christalena;
    • Tilemis, Faidon‐Nikolaos;
    • Kosma, Konstantina;
    • Tsoutsou, Eirini;
    • Fryssira, Helen;
    • Traeger‐Synodinos, Joanne
    Publication type:
    Article
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    Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2488, doi. 10.1002/ajmg.a.62261
    By:
    • Berkay, Ezgi Gizem;
    • Elkanova, Leyla;
    • Kalaycı, Tuğba;
    • Uludağ Alkaya, Dilek;
    • Altunoğlu, Umut;
    • Cefle, Kıvanç;
    • Mıhçı, Ercan;
    • Nur, Banu;
    • Taşdelen, Elifcan;
    • Bayramoğlu, Zuhal;
    • Karaman, Volkan;
    • Toksoy, Güven;
    • Güneş, Nilay;
    • Öztürk, Şükrü;
    • Palandüz, Şükrü;
    • Kayserili, Hülya;
    • Tüysüz, Beyhan;
    • Uyguner, Zehra Oya
    Publication type:
    Article
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    De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
    By:
    • Dias, Caroline;
    • Pfundt, Rolph;
    • Kleefstra, Tjitske;
    • Shuurs‐Hoeijmakers, Janneke;
    • Boon, Elles M. J.;
    • Hagen, Johanna M.;
    • Zwijnenburg, Petra;
    • Weiss, Marjan M.;
    • Keren, Boris;
    • Mignot, Cyril;
    • Isapof, Arnaud;
    • Weiss, Karin;
    • Hershkovitz, Tova;
    • Iascone, Maria;
    • Maitz, Silvia;
    • Feichtinger, René G.;
    • Kotzot, Dieter;
    • Mayr, Johannes A.;
    • Ben‐Omran, Tawfeg;
    • Mahmoud, Laila
    Publication type:
    Article
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    Elevated holo‐transcobalamin in Gaucher disease type II: A case report.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2471, doi. 10.1002/ajmg.a.62252
    By:
    • Basgalupp, Suelen Porto;
    • Donis, Karina Carvalho;
    • Siebert, Marina;
    • e Vairo, Filippo Pinto;
    • Artigalas, Osvaldo;
    • Camargo Pinto, Louise L.;
    • Behringer, Sidney;
    • Spiekerkoetter, Ute;
    • Hannibal, Luciana;
    • Schwartz, Ida Vanessa D.
    Publication type:
    Article
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    Heritable disorders of oxygen sensing.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2576, doi. 10.1002/ajmg.a.62250
    By:
    • Semenza, Gregg L.
    Publication type:
    Article
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    Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2335, doi. 10.1002/ajmg.a.62237
    By:
    • Villela, Darine;
    • Mazzonetto, Patricia C.;
    • Migliavacca, Michele P.;
    • Perrone, Eduardo;
    • Guida, Gustavo;
    • Milanezi, Maria Fernanda G.;
    • Jorge, Alexander A. L.;
    • Ribeiro‐Bicudo, Lucilene A.;
    • Kok, Fernando;
    • Campagnari, Francine;
    • Rosso‐Giuliani, Liane;
    • Costa, Silvia Souza;
    • Vianna‐Morgante, Angela M.;
    • Pearson, Peter L.;
    • Krepischi, Ana C. V.;
    • Rosenberg, Carla
    Publication type:
    Article
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    A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
    By:
    • Keehan, Laura;
    • Jiang, Ming‐Ming;
    • Li, Xiaohui;
    • Marom, Ronit;
    • Dai, Hongzheng;
    • Murdock, David;
    • Liu, Pengfei;
    • Hunter, Jill V.;
    • Heaney, Jason D.;
    • Robak, Laurie;
    • Emrick, Lisa;
    • Lotze, Timothy;
    • Blieden, Lauren S.;
    • Lewis, Richard Alan;
    • Levin, Alex V.;
    • Capasso, Jenina;
    • Craigen, William J.;
    • Rosenfeld, Jill A.;
    • Lee, Brendan;
    • Burrage, Lindsay C.
    Publication type:
    Article
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    Evaluation of sleep‐disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2306, doi. 10.1002/ajmg.a.62229
    By:
    • Ademhan Tural, Dilber;
    • Emiralioglu, Nagehan;
    • Dogru, Deniz;
    • Ozsezen, Beste;
    • Ipek, Omer Faruk;
    • Sunman, Birce;
    • Nayir Buyuksahin, Halime;
    • Guzelkas, Ismail;
    • Ciki, Kismet;
    • Kilic, Kubra;
    • Vardar Yagli, Naciye;
    • Yalcin, Ebru;
    • Kiper, Nural;
    • Sivri, Serap;
    • Ozcelik, Ugur
    Publication type:
    Article
    45

    Publication schedule for 2021.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2289, doi. 10.1002/ajmg.a.61686
    Publication type:
    Article
    46

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2293, doi. 10.1002/ajmg.a.61689
    Publication type:
    Article