Works in Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 11

Results: 26
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    Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1829
    By:
    • Mohamed, Amal M.;
    • Kamel, Alaa K.;
    • Eid, Maha M.;
    • Eid, Ola M.;
    • Mekkawy, Mona;
    • Hussein, Shymaa H.;
    • Zaki, Maha S.;
    • Esmail, Samira;
    • Afifi, Hanan H.;
    • El‐Kamah, Ghada Y.;
    • Otaify, Ghada A.;
    • El‐Awady, Heba Ahmed;
    • Elaidy, Aya;
    • Essa, Mahmoud Y.;
    • El‐Ruby, Mona;
    • Ashaat, Engy A.;
    • Hammad, Saida A.;
    • Mazen, Inas;
    • Abdel‐Salam, Ghada M. H.;
    • Aglan, Mona
    Publication type:
    Article
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    Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1827
    By:
    • Tjon, Jill K.;
    • Lakeman, Phillis;
    • van Leeuwen, Elisabeth;
    • Waisfisz, Quinten;
    • Weiss, Marjan M.;
    • Tan‐Sindhunata, Gita M. B.;
    • Nikkels, Peter G. J.;
    • van der Voorn, Patrick J. P.;
    • Salomons, Gajja S.;
    • Burchell, George L.;
    • Linskens, Ingeborg H.;
    • van der Knoop, Bloeme J.;
    • de Vries, Johanna I. P.
    Publication type:
    Article
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    Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1822
    By:
    • Yu, Yue;
    • Shuai, Ruixue;
    • Liang, Lili;
    • Qiu, Wenjuan;
    • Shen, Linghua;
    • Wu, Shengnan;
    • Wei, Haiyan;
    • Chen, Yongxing;
    • Yang, Chiju;
    • Xu, Peng;
    • Chen, Xigui;
    • Zou, Hui;
    • Feng, Jizhen;
    • Niu, Tingting;
    • Hu, Haili;
    • Ye, Jun;
    • Zhang, Huiwen;
    • Lu, Deyun;
    • Gong, Zhuwen;
    • Zhan, Xia
    Publication type:
    Article
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    A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1814
    By:
    • Chesneau, Bertrand;
    • Plancke, Aurélie;
    • Rolland, Guillaume;
    • Marcheix, Bertrand;
    • Dulac, Yves;
    • Edouard, Thomas;
    • Plaisancié, Julie;
    • Aubert‐Mucca, Marion;
    • Julia, Sophie;
    • Langeois, Maud;
    • Lavabre‐Bertrand, Thierry;
    • Khau Van Kien, Philippe
    Publication type:
    Article
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    Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1645
    By:
    • Tosca, Lucie;
    • Drévillon, Loïc;
    • Mouka, Aurélie;
    • Lecerf, Laure;
    • Briand, Audrey;
    • Ortonne, Valérie;
    • Benoit, Virginie;
    • Brisset, Sophie;
    • Van Maldergem, Lionel;
    • Laudouar, Quitterie;
    • Heide, Solveig;
    • Goossens, Michel;
    • Giurgea, Irina;
    • Tachdjian, Gérard;
    • Métay, Corinne
    Publication type:
    Article
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    Issue Information.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1333
    Publication type:
    Article