Works in Molecular Genetics & Genomic Medicine, 2024, Vol 12, Issue 4

Results: 23
    1

    Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2443
    By:
    • Sen, Kuntal;
    • Izem, Rima;
    • Long, Yuelin;
    • Jiang, Jiji;
    • Konczal, Laura L.;
    • McCarter, Robert J.;
    • Mew, Nicholas Ah;
    • Baumgartner, Matthias R.;
    • Berry, Gerard;
    • Berry, Susan A.;
    • Burgard, Peter;
    • Burrage, Lindsay C.;
    • Cederbaum, Stephen;
    • Coughlin, Curtis;
    • Diaz, George A.;
    • Enns, Gregory;
    • Gallagher, Renata C.;
    • Harding, Cary O.;
    • Hoffmann, Georg F.;
    • Le Mons, Cynthia
    Publication type:
    Article
    2
    3

    Malformations of cortical development: Fetal imaging and genetics.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2440
    By:
    • Wang, Lin‐Lin;
    • Pan, Ping‐Shan;
    • Ma, Hui;
    • He, Chun;
    • Qin, Zai‐Long;
    • He, Wei;
    • Huang, Jing;
    • Tan, Shu‐Yin;
    • Meng, Da‐Hua;
    • Wei, Hong‐Wei;
    • Yin, Ai‐Hua
    Publication type:
    Article
    4
    5

    Mother's smoking habits affects IL10 methylation but not asthma in Ecuadorian children.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2438
    By:
    • Ochoa‐Avilés, Cristina;
    • Ochoa‐Avilés, Angélica;
    • Rivas‐Párraga, Roque;
    • Escandón, Samuel;
    • Santos‐Jesus, Talita Dos;
    • Silva, Milca de J.;
    • Leão, Valderiene;
    • Salinas, Marco;
    • Vicuña, Yosselin;
    • Baldeón, Lucy;
    • Molina‐Cando, María José;
    • Morillo, Diana;
    • Machuca, Marcos;
    • Rodas, Claudia;
    • Figueiredo, Camila;
    • Neira, Vivian Alejandra
    Publication type:
    Article
    6

    The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2437
    By:
    • Bouassida, Malek;
    • Molina‐Gomes, Denise;
    • Koraichi, Fairouz;
    • Hervé, Bérénice;
    • Lhuilier, Morgane;
    • Duvillier, Clémence;
    • Le Gall, Jessica;
    • Gauthier‐Villars, Marion;
    • Serazin, Valérie;
    • Quibel, Thibaud;
    • Dard, Rodolphe;
    • Vialard, François
    Publication type:
    Article
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    Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.

    Published in:
    2024
    By:
    • Higashi, Kanako;
    • Sonoda, Yuri;
    • Kaku, Noriyuki;
    • Fujii, Fumihiko;
    • Yamashita, Fumiya;
    • Lee, Sooyoung;
    • Tocan, Vlad;
    • Ebihara, Go;
    • Matsuoka, Wakato;
    • Tetsuhara, Kenichi;
    • Sonoda, Motoshi;
    • Chong, Pin Fee;
    • Mushimoto, Yuichi;
    • Kojima‐Ishii, Kanako;
    • Ishimura, Masataka;
    • Koga, Yuhki;
    • Fukuta, Atsuhisa;
    • Tsuchihashi, Nana Akagi;
    • Kikuchi, Yoshikazu;
    • Karashima, Takahito
    Publication type:
    Case Study
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    Association of a genetic variant in angiopoietin‐like 3 with serum HDL‐C and risk of cardiovascular disease: A study of the MASHAD cohort over 6 years.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2418
    By:
    • Aghasizadeh, Malihe;
    • Ahmadi Hoseini, Asieh;
    • Sahebi, Reza;
    • Kazemi, Tooba;
    • Asadiyan‐Sohan, Parisa;
    • Esmaily, Habibollah;
    • Samadi, Sara;
    • Avan, Amir;
    • Ferns, Gordon A.;
    • Khosravi, Saeede;
    • Ghazizadeh, Hamideh;
    • Miri‐Moghaddam, Ebrahim;
    • Ghayour‐Mobarhan, Majid
    Publication type:
    Article
    22
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    Issue Information.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2206
    Publication type:
    Article