Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 10

Results: 36
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    Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63725
    By:
    • Abbott, Megan;
    • Angione, Katie;
    • Forbes, Emily;
    • Stoecker, Mikayla;
    • Saenz, Margarita;
    • Neul, Jeffrey L.;
    • Marsh, Eric D.;
    • Skinner, Steven A.;
    • Percy, Alan K.;
    • Benke, Tim A.
    Publication type:
    Article
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    Long‐term clinical observation of patients with heterozygous KIF1A variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63656
    By:
    • Kawashima, Aritomo;
    • Kodama, Kaori;
    • Okubo, Yukimune;
    • Endo, Wakaba;
    • Inui, Takehiko;
    • Ikeda, Miki;
    • Katata, Yu;
    • Togashi, Noriko;
    • Ohba, Chihiro;
    • Imagawa, Eri;
    • Iwama, Kazuhiro;
    • Mizuguchi, Takeshi;
    • Kitami, Masahiro;
    • Aihara, Yu;
    • Takayama, Jun;
    • Tamiya, Gen;
    • Kikuchi, Atsuo;
    • Kure, Shigeo;
    • Saitsu, Hirotomo;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    Large regions of homozygosity in prenatal diagnosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63712
    By:
    • Ma, Di;
    • Ye, Mei;
    • Hu, Wenlong;
    • Gao, Hui;
    • Wang, Lijuan;
    • Song, Yaqin;
    • Nie, Rui;
    • Hu, Zhiyang;
    • Guo, Hui
    Publication type:
    Article
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    TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63716
    By:
    • Chacon‐Camacho, Oscar Francisco;
    • Ordaz‐Robles, Thania;
    • Cid‐García, Marion Aline;
    • Hofmann‐Blancas, María Enriqueta;
    • Ledesma‐Gil, Jasbeth;
    • García‐Huerta, María Magdalena;
    • Prado‐Larrea, Carolina;
    • Cortés‐González, Vianney;
    • Lozano‐Garza, Rodrigo Isaac;
    • García‐Vega, Daphne;
    • Kim, JiHye;
    • Khang, Rin;
    • Lee, Eugene;
    • Zenteno, Juan Carlos
    Publication type:
    Article
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    Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023).

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63638
    By:
    • Lin, Angela E.;
    • Scimone, Eleanor R.;
    • Thom, Robyn P.;
    • Balaguru, Duraisamy;
    • Kinane, T. Bernard;
    • Moschovis, Peter P.;
    • Cohen, Michael S.;
    • Tan, Weizhen;
    • Hague, Cole D.;
    • Dannheim, Katelyn;
    • Levitsky, Lynne L.;
    • Lilly, Evelyn;
    • DiGiacomo, Daniel V.;
    • Masse, Kara M.;
    • Kadzielski, Sarah M.;
    • Zar‐Kessler, Claire A.;
    • Ginns, Leo C.;
    • Neumeyer, Ann M.;
    • Colvin, Mary K.;
    • Elder, Jack S.
    Publication type:
    Article
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    ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63602
    By:
    • Perrone, Eduardo;
    • Coelho, Antonio Victor Campos;
    • Virmond, Luiza do Amaral;
    • Espolaor, Jessica Grasiela de Araujo;
    • Filho, João Bosco de Oliveira;
    • Nascimento, Amanda Thamires Batista do;
    • Matta, Marina Cadena da;
    • Meira, Joanna Goes Castro;
    • Cardoso—Júnior, Laércio Moreira;
    • Andrade, Ana Camila Mendes;
    • Chaves, Ricardo Zantieff Topolski;
    • Acosta, Angelina Xavier
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63290
    Publication type:
    Article
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