Works matching DE "AGENESIS of corpus callosum"


Results: 1182
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    Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.

    Published in:
    Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09728-7
    By:
    • Aslam, Komal;
    • Saeed, Aysha;
    • Saeed, Hafiza Iqra;
    • Bashir, Rasheeda;
    • Abid, Hanna;
    • Akhtar, Roeha;
    • Habib, Nida;
    • Khan, Ramisha;
    • Asif, Roha;
    • Rafiq, Shereen;
    • Asif, Maria;
    • Makhdoom, Ehtisham Ul Haq;
    • Hussain, Muhammad Sajid;
    • Baig, Shahid Mahmood;
    • Anjum, Iram
    Publication type:
    Article
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    Biological Scaffolds for Congenital Heart Disease.

    Published in:
    Bioengineering (Basel), 2023, v. 10, n. 1, p. 57, doi. 10.3390/bioengineering10010057
    By:
    • Harris, Amy G.;
    • Salih, Tasneem;
    • Ghorbel, Mohamed T.;
    • Caputo, Massimo;
    • Biglino, Giovanni;
    • Carrabba, Michele
    Publication type:
    Article
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    Agenesis of the left lobe of liver.

    Published in:
    ANZ Journal of Surgery, 2022, v. 92, n. 12, p. 3377, doi. 10.1111/ans.17704
    By:
    • Wang, Zheng;
    • Li, Saixin;
    • Sui, Minghao;
    • Liu, Jiafeng;
    • Liang, Kuo;
    • Liu, Dongbin
    Publication type:
    Article
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    ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1276, doi. 10.1002/acn3.51629
    By:
    • Thomas, Ajay X.;
    • Link, Nichole;
    • Robak, Laurie A.;
    • Demmler‐Harrison, Gail;
    • Pao, Emily C.;
    • Squire, Audrey E.;
    • Michels, Savannah;
    • Cohen, Julie S.;
    • Comi, Anne;
    • Prontera, Paolo;
    • Verrotti di Pianella, Alberto;
    • Di Cara, Giuseppe;
    • Garavelli, Livia;
    • Caraffi, Stefano Giuseppe;
    • Fusco, Carlo;
    • Zuntini, Roberta;
    • Parks, Kendall C.;
    • Sherr, Elliott H.;
    • Hashem, Mais O.;
    • Maddirevula, Sateesh
    Publication type:
    Article
    47

    Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 902, doi. 10.1002/acn3.51603
    By:
    • Ando, Masahiro;
    • Higuchi, Yujiro;
    • Yuan, Junhui;
    • Yoshimura, Akiko;
    • Taniguchi, Takaki;
    • Takei, Jun;
    • Takeuchi, Mika;
    • Hiramatsu, Yu;
    • Shimizu, Fumitaka;
    • Kubota, Masaya;
    • Takeshima, Akari;
    • Ueda, Takehiro;
    • Koh, Kishin;
    • Nagaoka, Utako;
    • Tokashiki, Takashi;
    • Sawai, Setsu;
    • Sakiyama, Yusuke;
    • Hashiguchi, Akihiro;
    • Sato, Ryota;
    • Kanda, Takashi
    Publication type:
    Article
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    Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 4, p. 655, doi. 10.1002/acn3.735
    By:
    • Pringsheim, Milka;
    • Mitter, Diana;
    • Schröder, Simone;
    • Warthemann, Rita;
    • Plümacher, Kim;
    • Kluger, Gerhard;
    • Baethmann, Martina;
    • Bast, Thomas;
    • Braun, Sarah;
    • Büttel, Hans‐Martin;
    • Conover, Elizabeth;
    • Courage, Carolina;
    • Datta, Alexandre N.;
    • Eger, Angelika;
    • Grebe, Theresa A.;
    • Hasse‐Wittmer, Annette;
    • Heruth, Marion;
    • Höft, Karen;
    • Kaindl, Angela M.;
    • Karch, Stephanie
    Publication type:
    Article