Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 12

Results: 48
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    Dr Jacqueline Noonan—Our hero.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2823, doi. 10.1002/ajmg.a.61959
    By:
    • Ellis, Michelle
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2816, doi. 10.1002/ajmg.a.61954
    Publication type:
    Article
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    Jacqueline A. Noonan.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2820, doi. 10.1002/ajmg.a.61925
    By:
    • Opitz, John M.
    Publication type:
    Article
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    Rubinstein–Taybi syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2939, doi. 10.1002/ajmg.a.61888
    By:
    • Tekendo‐Ngongang, Cedrik;
    • Owosela, Babajide;
    • Fleischer, Nicole;
    • Addissie, Yonit A.;
    • Malonga, Bryan;
    • Badoe, Ebenezer;
    • Gupta, Neerja;
    • Moresco, Angélica;
    • Huckstadt, Victoria;
    • Ashaat, Engy A.;
    • Hussen, Dalia Farouk;
    • Luk, Ho‐Ming;
    • Lo, Ivan F. M.;
    • Hon‐Yin Chung, Brian;
    • Fung, Jasmine L. F.;
    • Moretti‐Ferreira, Danilo;
    • Batista, Letícia Cassimiro;
    • Lotz‐Esquivel, Stephanie;
    • Saborio‐Rocafort, Manuel;
    • Badilla‐Porras, Ramses
    Publication type:
    Article
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    Further delineation of HIDEA syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2999, doi. 10.1002/ajmg.a.61885
    By:
    • Maddirevula, Sateesh;
    • Ben‐Omran, Tawfeg;
    • AlMureikhi, Mariam;
    • Eyaid, Wafa;
    • Arabi, Hisham;
    • Alkuraya, Hisham;
    • Alfaifi, Abdullah;
    • Alfalah, Abdullah Hamed;
    • Alsaif, Hessa S.;
    • Abdulwahab, Firdous;
    • Alfadhel, Majid;
    • Alkuraya, Fowzan S.
    Publication type:
    Article
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    EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2926, doi. 10.1002/ajmg.a.61883
    By:
    • Cohen, Jennifer L.;
    • Schrier Vergano, Samantha A.;
    • Mazzola, Sarah;
    • Strong, Alanna;
    • Keena, Beth;
    • McDougall, Carey;
    • Ritter, Alyssa;
    • Li, Dong;
    • Bedoukian, Emma C.;
    • Burke, Leah W.;
    • Hoffman, Amber;
    • Zurcher, Victoria;
    • Krantz, Ian D.;
    • Izumi, Kosuke;
    • Bhoj, Elizabeth;
    • Zackai, Elaine H.;
    • Deardorff, Matthew A.
    Publication type:
    Article
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    Diagnosis of Chediak Higashi disease in a 67‐year old woman.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3007, doi. 10.1002/ajmg.a.61886
    By:
    • Yarnell, David S.;
    • Roney, Joseph C.;
    • Teixeira, Cláudia;
    • Freitas, Maria I.;
    • Cipriano, Ana;
    • Leuschner, Pedro;
    • Krzewski, Konrad;
    • Stephen, Joshi;
    • Dorward, Heidi;
    • Gahl, William A.;
    • Gochuico, Bernadette R.;
    • Toro, Camilo;
    • Malicdan, May C.;
    • Introne, Wendy J.
    Publication type:
    Article
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    Headaches in hypermobility syndromes: A pain in the neck?

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2902, doi. 10.1002/ajmg.a.61873
    By:
    • Malhotra, Anuj;
    • Pace, Anna;
    • Ruiz Maya, Tania;
    • Colman, Rachel;
    • Gelb, Bruce D.;
    • Mehta, Lakshmi;
    • Kontorovich, Amy R.
    Publication type:
    Article
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    Corrigendum.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3076, doi. 10.1002/ajmg.a.61869
    Publication type:
    Article
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    Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2877, doi. 10.1002/ajmg.a.61859
    By:
    • Giangiobbe, Sara;
    • Caraffi, Stefano Giuseppe;
    • Ivanovski, Ivan;
    • Maini, Ilenia;
    • Pollazzon, Marzia;
    • Rosato, Simonetta;
    • Trimarchi, Gabriele;
    • Lauriello, Anna;
    • Marinelli, Maria;
    • Nicoli, Davide;
    • Baldo, Chiara;
    • Laurie, Steven;
    • Flores‐Daboub, Josue;
    • Provenzano, Aldesia;
    • Andreucci, Elena;
    • Peluso, Francesca;
    • Rizzo, Renata;
    • Stewart, Helen;
    • Lachlan, Katherine;
    • Bayat, Allan
    Publication type:
    Article
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    Obstructive sleep apnea in adults with Down syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2832, doi. 10.1002/ajmg.a.61853
    By:
    • Landete, Pedro;
    • Soriano, Joan B.;
    • Aldave, Beatriz;
    • Zamora, Enrique;
    • Acosta, Carmen;
    • Erro, Marta;
    • López Riolobos, Cristina;
    • Ramos, M. Inmaculata;
    • Moldenhauer, Fernando;
    • Ancochea, Julio
    Publication type:
    Article
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    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2812, doi. 10.1002/ajmg.a.61252
    Publication type:
    Article
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