Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 9

Results: 35
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    Aminotransferase trends in propionic acidemia.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63659
    By:
    • Silva, Maria P.;
    • Raski, Carolyn R.;
    • Charrow, Joel;
    • Baker, Joshua J.;
    • Prada, Carlos E.
    Publication type:
    Article
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    Neurodevelopmental disorder associated with gene ARF3: A case report.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63658
    By:
    • dos Santos Henrique, Suelen;
    • França, Mariana Jordão;
    • Silva Junior, Rui Carlos;
    • Santos, Mara Lúcia Schmitz Ferreira;
    • do Valle, Daniel Almeida
    Publication type:
    Article
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    ITPR1: The missing gene in miosis–ataxia syndrome?

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63655
    By:
    • Chesneau, Bertrand;
    • Calvas, Patrick;
    • Cassagne, Myriam;
    • Varenne, Fanny;
    • Rozet, Jean‐Michel;
    • Bonneville, Fabrice;
    • Chassaing, Nicolas;
    • Fournié, Pierre;
    • Fares‐Taie, Lucas;
    • Plaisancié, Julie
    Publication type:
    Article
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    Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63646
    By:
    • MacCarrick, Gretchen;
    • Aradhya, Swaroop;
    • Bailey, Mitch;
    • Chu, Dorna;
    • Hunt, Abigail;
    • Izzo, Emanuela;
    • Krakow, Deborah;
    • Mackenzie, William;
    • Poll, Sarah;
    • Raggio, Cathleen;
    • Shediac, Renée;
    • White, Klane K.;
    • McLaughlin, Heather M.;
    • Seratti, Guillermo
    Publication type:
    Article
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    X‐linked genetic associations in sporadic thoracic aortic dissection.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63644
    By:
    • Musfee, Fadi I.;
    • Jun, Goo;
    • Mitchell, Laura E.;
    • Chen, Han;
    • Guo, Dongchuan;
    • Prakash, Siddharth K.;
    • Adkar, Shaunak Sanjay;
    • Grove, Megan L.;
    • Choi, Ryan Bohyun;
    • Klarin, Derek;
    • Boerwinkle, Eric;
    • Milewicz, Dianna M.
    Publication type:
    Article
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    Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63642
    By:
    • Blanc, Albin;
    • Bonnet, Céline;
    • Wandzel, Marion;
    • Roth, Virginie;
    • Duffourd, Yannis;
    • Safraou, Hanna;
    • Leheup, Bruno;
    • Muller, Florence;
    • D Colne, Julie;
    • Feillet, François;
    • Schmitt, Emmanuelle;
    • Castro, Matheus;
    • Savatt, Jullian;
    • Burcheri, Adriano;
    • Nemos, Christophe;
    • Philippe, Christophe;
    • Lambert, Laëtitia
    Publication type:
    Article
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    Identification of a de novo PUF60 variant associated with craniofacial microsomia.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63631
    By:
    • Ogawa, Takuya;
    • Xue, Jingyi;
    • Guo, Long;
    • Inoue‐Arai, Maristela Sayuri;
    • Vendramini‐Pittoli, Siulan;
    • Zechi‐Ceide, Roseli Maria;
    • Candido‐Souza, Rosana Maria;
    • Tonello, Cristiano;
    • Brandão, Michele Madeira;
    • Ozawa, Terumi Okada;
    • Peixoto, Adriano Porto;
    • Ruiz, Daniela Maria Cury Ferreira;
    • Nakashima, Tomoki;
    • Ikegawa, Shiro;
    • Moriyama, Keiji;
    • Kokitsu‐Nakata, Nancy Mizue
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63286
    Publication type:
    Article
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