Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 6

Results: 16
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    SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 757, doi. 10.1111/cge.14608
    By:
    • Malbos, Marlène;
    • Vera, Gabriella;
    • Sheth, Harsh;
    • Schnur, Rhonda E.;
    • Juven, Aurélien;
    • Brehin, Anne‐Claire;
    • Sheth, Jayesh;
    • Gandhi, Ajit;
    • Shapiro, Faye L.;
    • Bruel, Ange‐Line;
    • Marguet, Florent;
    • Begtrup, Amber;
    • Monaghan, Kristin G.;
    • Safraou, Hana;
    • Brasseur‐Daudruy, Marie;
    • Mau‐Them, Frédéric Tran;
    • Duffourd, Yannis;
    • Faivre, Laurence;
    • Thauvin‐Robinet, Christel;
    • Benke, Paul J.
    Publication type:
    Article
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    Novel PLEC variants associated with infantile cholestasis.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 769, doi. 10.1111/cge.14611
    By:
    • Kor‐anantakul, Phawin;
    • Chen, Huey‐Ling;
    • Chen, Ya‐Hui;
    • Ittiwut, Chupong;
    • Ittiwut, Rungnapa;
    • Chaijitraruch, Nataruks;
    • Suphapeetiporn, Kanya;
    • Chongsrisawat, Voranush
    Publication type:
    Article
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    10

    Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 713, doi. 10.1111/cge.14601
    By:
    • Tenorio‐Castano, Jair;
    • Mansilla Aparicio, Elena;
    • García Santiago, Fe Amalia;
    • Klotz, Cherise M.;
    • Regojo, Rita María;
    • Anguita, Estefanía;
    • Ryan, Erin;
    • Juusola, Jane;
    • Herrero, Beatriz;
    • Arias, Pedro;
    • Parra, Alejandro;
    • Pascual, Patricia;
    • Gallego, Natalia;
    • Cazalla, Mario;
    • Rodriguez‐González, Roberto;
    • Antolín, Eugenia;
    • Nevado, Julián;
    • Ruiz‐Perez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
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    Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 693, doi. 10.1111/cge.14599
    By:
    • Alerasool, Masoome;
    • Eslahi, Atieh;
    • Vona, Barbara;
    • Kahaei, Mir Salar;
    • Mojaver, Nasrin Kaseb;
    • Rajati, Mohsen;
    • Pasdar, Alireza;
    • Ghasemi, Mohammad Mehdi;
    • Saburi, Ehsan;
    • Ardehaie, Reza Mousavi;
    • Aval, Majid Hadadi;
    • Tale, Mohammad Reza;
    • Nourizadeh, Navid;
    • Afzalzadeh, Mohammad Reza;
    • Niknezhad, Hamid Tayarani;
    • Mojarrad, Majid
    Publication type:
    Article
    14

    Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 721, doi. 10.1111/cge.14602
    By:
    • Fussiger, Helena;
    • Lima, Pedro Lucas G. S. B.;
    • Souza, Paulo V. S.;
    • Freua, Fernando;
    • Husny, Antonette S. E.;
    • Leão, Emília K. E. A.;
    • Braga‐Neto, Pedro;
    • Kok, Fernando;
    • Lynch, David S.;
    • Saute, Jonas A. M.;
    • Nóbrega, Paulo R.
    Publication type:
    Article
    15

    Issue Information.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 665, doi. 10.1111/cge.14377
    Publication type:
    Article
    16