Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 4

Results: 35
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    Letter to the Editor regarding "New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63507
    By:
    • Duzenli, Tarik;
    • Sezer, Abdullah;
    • Percin, Ferda Emriye
    Publication type:
    Article
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    Ophthalmic manifestations of Czech dysplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63480
    By:
    • Soh, Zack;
    • Martin, Howard;
    • Richards, Allan J.;
    • Suri, Mohnish;
    • Snead, Martin P.
    Publication type:
    Article
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    SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi–Goutières syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63486
    By:
    • Karla, Aamuktha R.;
    • Pinard, Amélie;
    • Boerio, Maura L.;
    • Hemelsoet, Dimitri;
    • Tavernier, Simon J.;
    • De Pauw, Michel;
    • Vereecke, Elke;
    • Fraser, Stuart;
    • Bamshad, Michael J.;
    • Guo, Dongchuan;
    • Callewaert, Bert;
    • Milewicz, Dianna M.
    Publication type:
    Article
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    Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63479
    By:
    • Quilichini, Juliette;
    • Perol, Sandrine;
    • Cuisset, Laurence;
    • Grotto, Sarah;
    • Fouveaut, Corinne;
    • Barbot, Jean Claude;
    • Verebi, Camille;
    • Jordan, Pénélope;
    • Héron, Delphine;
    • Molina‐Gomes, Denise;
    • Pipiras, Eva;
    • Grynberg, Michael;
    • Catteau‐Jonard, Sophie;
    • Touraine, Philippe;
    • Christin‐Maître, Sophie;
    • Plu‐Bureau, Geneviève;
    • El Khattabi, Laila;
    • Bienvenu, Thierry
    Publication type:
    Article
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    The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63477
    By:
    • Pierpont, Elizabeth I.;
    • Bennett, Anton M.;
    • Schoyer, Lisa;
    • Stronach, Beth;
    • Anschutz, April;
    • Borrie, Sarah C.;
    • Briggs, Benjamin;
    • Burkitt‐Wright, Emma;
    • Castel, Pau;
    • Cirstea, Ion C.;
    • Draaisma, Fieke;
    • Ellis, Michelle;
    • Fear, Vanessa S.;
    • Frone, Megan N.;
    • Flex, Elisabetta;
    • Gelb, Bruce D.;
    • Green, Tamar;
    • Gripp, Karen W.;
    • Khoshkhoo, Sattar;
    • Kieran, Mark W.
    Publication type:
    Article
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    Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63476
    By:
    • Jedraszak, Guillaume;
    • Jobic, Florence;
    • Receveur, Aline;
    • Bilan, Frédéric;
    • Gilbert‐Dussardier, Brigitte;
    • Tiffany, Busa;
    • Missirian, Chantal;
    • Willems, Marjolaine;
    • Odent, Sylvie;
    • Lucas, Josette;
    • Dubourg, Christele;
    • Schaefer, Elise;
    • Scheidecker, Sophie;
    • Lespinasse, James;
    • Goldenberg, Alice;
    • Guerrot, Anne‐Marie;
    • Joly‐Helas, Géraldine;
    • Chambon, Pascal;
    • Le Caignec, Cédric;
    • David, Albert
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63266
    Publication type:
    Article
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