Found: 7

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  • Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

    Published in:
    2022
    By:
    • Johannesen, Katrine M;
    • Liu, Yuanyuan;
    • Koko, Mahmoud;
    • Gjerulfsen, Cathrine E;
    • Sonnenberg, Lukas;
    • Schubert, Julian;
    • Fenger, Christina D;
    • Eltokhi, Ahmed;
    • Rannap, Maert;
    • Koch, Nils A;
    • Lauxmann, Stephan;
    • Krüger, Johanna;
    • Kegele, Josua;
    • Canafoglia, Laura;
    • Franceschetti, Silvana;
    • Mayer, Thomas;
    • Rebstock, Johannes;
    • Zacher, Pia;
    • Ruf, Susanne;
    • Alber, Michael
    Publication type:
    journal article

  • KDM5A mutations identified in autism spectrum disorder using forward genetics.

    Published in:
    eLife, 2020, p. 1, doi. 10.7554/eLife.56883
    By:
    • Hayek, Lauretta El;
    • Tuncay, Islam Oguz;
    • Nijem, Nadine;
    • Russell, Jamie;
    • Ludwig, Sara;
    • Kaur, Kiran;
    • Xiaohong Li;
    • Anderton, Priscilla;
    • Tang, Miao;
    • Gerard, Amanda;
    • Heinze, Anja;
    • Zacher, Pia;
    • Alsaif, Hessa S.;
    • Rad, Aboulfazl;
    • Abbaszadegan, Kazem Hassanpour Mohammad Reza;
    • Washington, Camerun;
    • DuPont, Barbara R.;
    • Louie, Raymond J.;
    • Couse, Madeline;
    • Faden, Maha
    Publication type:
    Article

  • Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.

    Published in:
    Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.663643
    By:
    • Bayat, Allan;
    • Pendziwiat, Manuela;
    • Obersztyn, Ewa;
    • Goldenberg, Paula;
    • Zacher, Pia;
    • Döring, Jan Henje;
    • Syrbe, Steffen;
    • Begtrup, Amber;
    • Borovikov, Artem;
    • Sharkov, Artem;
    • Karasińska, Aneta;
    • Giżewska, Maria;
    • Mitchell, Wendy;
    • Morava, Eva;
    • Møller, Rikke S.;
    • Rubboli, Guido
    Publication type:
    Article

  • Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
    By:
    • Körner, Marek B.;
    • Velluva, Akhil;
    • Bundalian, Linnaeus;
    • Radtke, Maximilian;
    • Lin, Chen-Ching;
    • Zacher, Pia;
    • Bartolomaeus, Tobias;
    • Kirstein, Anna S.;
    • Mrestani, Achmed;
    • Scholz, Nicole;
    • Platzer, Konrad;
    • Teichmann, Anne-Christin;
    • Hentschel, Julia;
    • Langenhan, Tobias;
    • Lemke, Johannes R.;
    • Garten, Antje;
    • Abou Jamra, Rami;
    • Le Duc, Diana
    Publication type:
    Article

  • Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
    By:
    • Körner, Marek B.;
    • Velluva, Akhil;
    • Bundalian, Linnaeus;
    • Radtke, Maximilian;
    • Lin, Chen-Ching;
    • Zacher, Pia;
    • Bartolomaeus, Tobias;
    • Kirstein, Anna S.;
    • Mrestani, Achmed;
    • Scholz, Nicole;
    • Platzer, Konrad;
    • Teichmann, Anne-Christin;
    • Hentschel, Julia;
    • Langenhan, Tobias;
    • Lemke, Johannes R.;
    • Garten, Antje;
    • Abou Jamra, Rami;
    • Le Duc, Diana
    Publication type:
    Article

  • Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1722, doi. 10.1002/ajmg.a.63194
    By:
    • Gazdagh, Gabriella;
    • Hunt, David;
    • Gonzalez, Anna Maria Cueto;
    • Rodriguez, Monserrat Pons;
    • Chaudhry, Ayeshah;
    • Madruga, Marcos;
    • Vansenne, Fleur;
    • Shears, Deborah;
    • Curie, Aurore;
    • Stattin, Eva‐Lena;
    • Anderlid, Britt‐Marie;
    • Trajkova, Slavica;
    • Angelovska, Elena Sukarova;
    • McWilliam, Catherine;
    • Wyatt, Philip R.;
    • O'Driscoll, Mary;
    • Atton, Giles;
    • Bergman, Anke K.;
    • Zacher, Pia;
    • Mewasingh, Leena D.
    Publication type:
    Article

  • Parental mosaicism in epilepsies due to alleged de novo variants.

    Published in:
    Epilepsia (Series 4), 2019, v. 60, n. 6, p. e63, doi. 10.1111/epi.15187
    By:
    • Møller, Rikke S.;
    • Zacher, Pia;
    • Syrbe, Steffen;
    • Liebmann, Nora;
    • Stiller, Mathias;
    • Hentschel, Julia;
    • Lemke, Johannes R.;
    • Larsen, Line H. G.;
    • Kako, Nahrain;
    • Dahl, Hans A.;
    • Abdin, Dalia;
    • Di Donato, Nataliya;
    • Pal, Deb K.
    Publication type:
    Article