Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 2

Results: 36
    1

    Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 311, doi. 10.1002/ajmg.a.63441
    By:
    • Kanakatti Shankar, Roopa;
    • Carl, Alexandra;
    • Law, Jennifer R.;
    • Bamba, Vaneeta;
    • Brickman, Wendy J.;
    • Prakash, Siddharth K.;
    • Dowlut McElroy, Tazim;
    • Howell, Susan;
    • Gutmark Little, Iris;
    • Klein, Karen O.;
    • Pinnaro, Catherina T.;
    • Ranallo, Kelly;
    • Good, Marybel;
    • Davis, Shanlee M.
    Publication type:
    Article
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    Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 211, doi. 10.1002/ajmg.a.63434
    By:
    • Jiménez de la Peña, Mar;
    • Rincón‐Pérez, Irene;
    • López‐Martín, Sara;
    • Albert, Jacobo;
    • Martín Fernández‐Mayoralas, Daniel;
    • Fernández‐Perrone, Ana Laura;
    • Jiménez de Domingo, Ana;
    • Tirado, Pilar;
    • Calleja‐Pérez, Beatriz;
    • Porta, Javier;
    • Álvarez, Sara;
    • Fernández‐Jaén, Alberto
    Publication type:
    Article
    13

    Diagnostic yield of chromosomal microarray in the largest Latino clinical cohort.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 218, doi. 10.1002/ajmg.a.63427
    By:
    • Carrillo, Yina D.;
    • Rueda‐Gaitán, Paula;
    • Gualdrón, Orlando;
    • Estrada‐Serrato, Carlos;
    • Castro‐Cuesta, Taryn A.;
    • Londoño, Olga;
    • Rodríguez‐Salazar, Luna;
    • Isaza‐Ruget, Mario;
    • Arcos‐Burgos, Mauricio;
    • López Rivera, Juan Javier
    Publication type:
    Article
    14

    Annular pancreas in two sisters: The story goes on.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 400, doi. 10.1002/ajmg.a.63432
    By:
    • Elischer, Philipp;
    • Caliebe, Almuth;
    • Nagel, Inga;
    • Bergholz, Robert;
    • Schrappe, Martin;
    • Claviez, Alexander;
    • Longardt, Ann Carolin
    Publication type:
    Article
    15

    Growth reference charts for children with hypochondroplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 243, doi. 10.1002/ajmg.a.63431
    By:
    • Cheung, Moira S.;
    • Cole, Tim J.;
    • Arundel, Paul;
    • Bridges, Nicola;
    • Burren, Christine P.;
    • Cole, Trevor;
    • Davies, Justin Huw;
    • Hagenäs, Lars;
    • Högler, Wolfgang;
    • Hulse, Anthony;
    • Mason, Avril;
    • McDonnell, Ciara;
    • Merker, Andrea;
    • Mohnike, Klaus;
    • Sabir, Ataf;
    • Skae, Mars;
    • Rothenbuhler, Anya;
    • Warner, Justin;
    • Irving, Melita
    Publication type:
    Article
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    The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 358, doi. 10.1002/ajmg.a.63420
    By:
    • Yap, Jia Ying Celeste;
    • Lim, Jiin Ying;
    • Bhatia, Anju;
    • Tan, Vic Khi June;
    • Koo, Stephanie;
    • Nishimura, Gen;
    • Moosa, Shahida;
    • Koh, Ai Ling;
    • Tan, Ene Choo;
    • Fong, Nikki;
    • Jamuar, Saumya Shekhar
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 129, doi. 10.1002/ajmg.a.63258
    Publication type:
    Article
    35

    The Legacy of David W. Smith.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 128, doi. 10.1002/ajmg.a.63257
    Publication type:
    Article
    36

    Parental age effects and Rett syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 160, doi. 10.1002/ajmg.a.63396
    By:
    • Fang, Xiaolan;
    • Baggett, Lauren M.;
    • Caylor, Raymond C.;
    • Percy, Alan K.;
    • Neul, Jeffrey L.;
    • Lane, Jane B.;
    • Glaze, Daniel G.;
    • Benke, Tim A.;
    • Marsh, Eric D.;
    • Motil, Kathleen J.;
    • Barrish, Judy O.;
    • Annese, Fran E.;
    • Skinner, Steven A.
    Publication type:
    Article