Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 6

Results: 41
    1

    Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1777, doi. 10.1002/ajmg.a.62708
    By:
    • Verberne, Eline A.;
    • Westermann, Jonne M.;
    • de Vries, Tamar I.;
    • Ecury‐Goossen, Ginette M.;
    • Lo‐A‐Njoe, Shirley M.;
    • Manshande, Meindert E.;
    • Faries, Sonja;
    • Veenhuis, Hans D.;
    • Philippi, Patricia;
    • Falix, Farah A.;
    • Rosina‐Angelista, Irsa;
    • Ponson‐Wever, Maria;
    • Rafael‐Croes, Louise;
    • Thorsen, Patricia;
    • Arends, Eric;
    • de Vroomen, Maartje;
    • Nagelkerke, Sietse Q.;
    • Tilanus, Martijn;
    • van der Veken, Lars T.;
    • Huijsdens‐van Amsterdam, Karin
    Publication type:
    Article
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    The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1915, doi. 10.1002/ajmg.a.62716
    By:
    • Kontaridis, Maria I.;
    • Roberts, Amy E.;
    • Schill, Lisa;
    • Schoyer, Lisa;
    • Stronach, Beth;
    • Andelfinger, Gregor;
    • Aoki, Yoko;
    • Axelrad, Marni E.;
    • Bakker, Annette;
    • Bennett, Anton M.;
    • Broniscer, Alberto;
    • Castel, Pau;
    • Chang, Caitlin A.;
    • Cyganek, Lukas;
    • Das, Tirtha K.;
    • den Hertog, Jeroen;
    • Galperin, Emilia;
    • Garg, Shruti;
    • Gelb, Bruce D.;
    • Gordon, Kristiana
    Publication type:
    Article
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    PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1868, doi. 10.1002/ajmg.a.62704
    By:
    • Magyar, Christina L.;
    • Murdock, David R.;
    • Burrage, Lindsay C.;
    • Dai, Hongzheng;
    • Lalani, Seema R.;
    • Lewis, Richard A.;
    • Lin, Yuezhen;
    • Astudillo, Marcela F.;
    • Rosenfeld, Jill A.;
    • Tran, Alyssa A.;
    • Gibson, James B.;
    • Bacino, Carlos A.;
    • Lee, Brendan H.;
    • Chao, Hsiao‐Tuan
    Publication type:
    Article
    16

    Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1752, doi. 10.1002/ajmg.a.62703
    By:
    • Loh, Abigail Y. T.;
    • Špoljar, Sanja;
    • Neo, Granville Y. W.;
    • Escande‐Beillard, Nathalie;
    • Leushacke, Marc;
    • Luijten, Monique N. H.;
    • Venkatesh, Byrappa;
    • Bonnard, Carine;
    • van Steensel, Maurice A. M.;
    • Hamm, Henning;
    • Carmichael, Andrew;
    • Rajan, Neil;
    • Carney, Thomas J.;
    • Reversade, Bruno
    Publication type:
    Article
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    LMOD2‐related dilated cardiomyopathy presenting in late infancy.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1858, doi. 10.1002/ajmg.a.62699
    By:
    • Lay, Erica;
    • Azamian, Mahshid S.;
    • Denfield, Susan W.;
    • Dreyer, William;
    • Spinner, Joseph A.;
    • Kearney, Debra;
    • Zhang, Lilei;
    • Worley, Kim C.;
    • Bi, Weimin;
    • Lalani, Seema R.
    Publication type:
    Article
    21
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    Hypothesis: Central digit hypoplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1746, doi. 10.1002/ajmg.a.62697
    By:
    • Holmes, Lewis B.;
    • Nasri, Hanah Z.
    Publication type:
    Article
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    Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1723, doi. 10.1002/ajmg.a.62691
    By:
    • Collins‐Sawaragi, Yoshua Colyn;
    • Ferner, Rosalie;
    • Vassallo, Grace;
    • De Agrò, Germana;
    • Eccles, Simon;
    • Cadwgan, Jill;
    • Hargrave, Darren;
    • Hupton, Eileen;
    • Eelloo, Judith;
    • Lunt, Lauren;
    • Tang, Vivian;
    • Burkitt Wright, Emma;
    • Lascelles, Karine
    Publication type:
    Article
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    Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1667, doi. 10.1002/ajmg.a.62673
    By:
    • Lines, Matthew A.;
    • Goldenberg, Paula;
    • Wong, Ashley;
    • Srivastava, Siddharth;
    • Bayat, Allan;
    • Hove, Hanne;
    • Karstensen, Helena Gásdal;
    • Anyane‐Yeboa, Kwame;
    • Liao, Jun;
    • Jiang, Nan;
    • May, Alison;
    • Guzman, Edwin;
    • Morleo, Manuela;
    • D'Arrigo, Stefano;
    • Ciaccio, Claudia;
    • Pantaleoni, Chiara;
    • Castello, Raffaele;
    • McKee, Shane;
    • Ong, Jinfon;
    • Zibdeh‐Lough, Hana
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1659, doi. 10.1002/ajmg.a.62299
    Publication type:
    Article
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    Publication schedule for 2022.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1655, doi. 10.1002/ajmg.a.62296
    Publication type:
    Article
    41