Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 10

Results: 40
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    Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3049, doi. 10.1002/ajmg.a.62922
    By:
    • Santoro, Stephanie L.;
    • Baumer, Nicole T.;
    • Cornacchia, Michelle;
    • Franklin, Catherine;
    • Hart, Sarah J.;
    • Haugen, Kelsey;
    • Hojlo, Margaret A.;
    • Horick, Nora;
    • Kishnani, Priya S.;
    • Krell, Kavita;
    • McCormick, Andrew;
    • Milliken, Anna L.;
    • Oreskovic, Nicolas M.;
    • Pawlowski, Katherine G.;
    • Sargado, Sabrina;
    • Torres, Amy;
    • Valentini, Diletta;
    • Vellody, Kishore;
    • Skotko, Brian G.
    Publication type:
    Article
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    Sleep disturbance is a common feature of Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3041, doi. 10.1002/ajmg.a.62921
    By:
    • Rapp, Tyler;
    • Kalinousky, Allison J.;
    • Johnson, Jennifer;
    • Bjornsson, Hans;
    • Harris, Jacqueline
    Publication type:
    Article
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    Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2958, doi. 10.1002/ajmg.a.62919
    By:
    • Hardcastle, Amy;
    • Berry, Aliska M.;
    • Campbell, Ian M.;
    • Zhao, Xiaonan;
    • Liu, Pengfei;
    • Gerard, Amanda E.;
    • Rosenfeld, Jill A.;
    • Sisoudiya, Saumya D.;
    • Hernandez‐Garcia, Andres;
    • Loddo, Sara;
    • Di Tommaso, Silvia;
    • Novelli, Antonio;
    • Dentici, Maria L.;
    • Capolino, Rossella;
    • Digilio, Maria C.;
    • Graziani, Ludovico;
    • Rustad, Cecilie F.;
    • Neas, Katherine;
    • Ferrero, Giovanni B.;
    • Brusco, Alfredo
    Publication type:
    Article
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    A retrospective cohort analysis of the Yale pediatric genomics discovery program.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2869, doi. 10.1002/ajmg.a.62918
    By:
    • Al‐Ali, Samir;
    • Jeffries, Lauren;
    • Faustino, E. Vincent S.;
    • Ji, Weizhen;
    • Mis, Emily;
    • Konstantino, Monica;
    • Zerillo, Cynthia;
    • Jiang, Yong‐hui;
    • Spencer‐Manzon, Michele;
    • Bale, Allen;
    • Zhang, Hui;
    • McGlynn, Julie;
    • McGrath, James M.;
    • Tremblay, Thierry;
    • Brodsky, Nina N.;
    • Lucas, Carrie L.;
    • Pierce, Richard;
    • Deniz, Engin;
    • Khokha, Mustafa K.;
    • Lakhani, Saquib A.
    Publication type:
    Article
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    An additional patient with SMAD4‐Juvenile Polyposis‐Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss‐of‐function and gain‐of‐function pathogenic variants result in contrasting phenotypes

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3084, doi. 10.1002/ajmg.a.62915
    By:
    • Gheewalla, Gregory M.;
    • Luther, Jay;
    • Das, Saumya;
    • Kreher, Jeffrey B.;
    • Scimone, Eleanor R.;
    • Wong, Ashley W.;
    • Lindsay, Mark E.;
    • Lin, Angela E.
    Publication type:
    Article
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    Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3032, doi. 10.1002/ajmg.a.62911
    By:
    • Cappuccio, Gerarda;
    • De Bernardi, Margherita Lucia;
    • Morlando, Alessia;
    • Peduto, Cristina;
    • Scala, Iris;
    • Pinelli, Michele;
    • Bellacchio, Emanuele;
    • Gallo, Flavio Gioele;
    • Magli, Adriano;
    • Plaitano, Carmen;
    • Serrano, Mercedes;
    • Pías, Leticia;
    • Català, Jaume;
    • Bolasell, Mercè;
    • Torella, Annalaura;
    • Nigro, Vincenzo;
    • Zanni, Ginevra;
    • Brunetti‐Pierri, Nicola
    Publication type:
    Article
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    WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3071, doi. 10.1002/ajmg.a.62903
    By:
    • Walczak‐Sztulpa, Joanna;
    • Wawrocka, Anna;
    • Sikora, Weronika;
    • Pawlak, Marta;
    • Bukowska‐Olech, Ewelina;
    • Kopaczewski, Bartłomiej;
    • Urzykowska, Agnieszka;
    • Arts, Heleen H.;
    • Gotz‐Więckowska, Anna;
    • Grenda, Ryszard;
    • Latos‐Bieleńska, Anna;
    • Glazar, Renata
    Publication type:
    Article
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    Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2920, doi. 10.1002/ajmg.a.62906
    By:
    • Macchiaiolo, Marina;
    • Panfili, Filippo M.;
    • Vecchio, Davide;
    • Cortellessa, Fabiana;
    • Gonfiantini, Michaela V.;
    • Buonuomo, Paola S.;
    • Pietrobattista, Andrea;
    • Francalanci, Paola;
    • Travaglini, Lorena;
    • Bertini, Enrico S.;
    • El Hachem, Maya;
    • Bartuli, Andrea
    Publication type:
    Article
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    ECHS1 deficiency and its biochemical and clinical phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2908, doi. 10.1002/ajmg.a.62895
    By:
    • Ozlu, Can;
    • Chelliah, Priya;
    • Dahshi, Hamza;
    • Horton, Daniel;
    • Edgar, Veronica B.;
    • Messahel, Souad;
    • Kayani, Saima
    Publication type:
    Article
    36

    Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2932, doi. 10.1002/ajmg.a.62894
    By:
    • Altassan, Ruqaiah;
    • Qudair, Ahmad;
    • Alokaili, Riyadh;
    • Alhasan, Khalid;
    • Faqeih, Eissa A.;
    • Alhashem, Amal;
    • Alowain, Muhammed;
    • Alsayed, Moeanaldeen;
    • Rahbeeni, Zuhair;
    • Albadi, Lama;
    • Alkuraya, Fowzan S.;
    • Anderson, Eric N.;
    • Rajan, Deepa;
    • Pandey, Udai Bhan
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2860, doi. 10.1002/ajmg.a.62322
    Publication type:
    Article
    38

    John M. Opitz Award Honorees.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2857, doi. 10.1002/ajmg.a.62321
    Publication type:
    Article
    39

    Publication schedule for 2022.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2856, doi. 10.1002/ajmg.a.62320
    Publication type:
    Article
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