Pauly, Martje G., Brüggemann, Norbert, Efthymiou, Stephanie, Grözinger, Anne, Diaw, Sokhna Haissatou, Chelban, Viorica, Turchetti, Valentina, Vona, Barbara, Tadic, Vera, Houlden, Henry, Münchau, Alexander, Lohmann, Katja (2023) Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. International Journal of Molecular Sciences, 24 (3) 1874 doi:10.3390/ijms24031874
| Reference Type | Journal (article/letter/editorial) | ||
|---|---|---|---|
| Title | Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder | ||
| Journal | International Journal of Molecular Sciences | ||
| Authors | Pauly, Martje G. | Author | |
| Brüggemann, Norbert | Author | ||
| Efthymiou, Stephanie | Author | ||
| Grözinger, Anne | Author | ||
| Diaw, Sokhna Haissatou | Author | ||
| Chelban, Viorica | Author | ||
| Turchetti, Valentina | Author | ||
| Vona, Barbara | Author | ||
| Tadic, Vera | Author | ||
| Houlden, Henry | Author | ||
| Münchau, Alexander | Author | ||
| Lohmann, Katja | Author | ||
| Year | 2023 (January 18) | Volume | 24 |
| Issue | 3 | ||
| Publisher | MDPI AG | ||
| DOI | doi:10.3390/ijms24031874Search in ResearchGate | ||
| Generate Citation Formats | |||
| Mindat Ref. ID | 15671386 | Long-form Identifier | mindat:1:5:15671386:5 |
| GUID | 0 | ||
| Full Reference | Pauly, Martje G., Brüggemann, Norbert, Efthymiou, Stephanie, Grözinger, Anne, Diaw, Sokhna Haissatou, Chelban, Viorica, Turchetti, Valentina, Vona, Barbara, Tadic, Vera, Houlden, Henry, Münchau, Alexander, Lohmann, Katja (2023) Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. International Journal of Molecular Sciences, 24 (3) 1874 doi:10.3390/ijms24031874 | ||
| Plain Text | Pauly, Martje G., Brüggemann, Norbert, Efthymiou, Stephanie, Grözinger, Anne, Diaw, Sokhna Haissatou, Chelban, Viorica, Turchetti, Valentina, Vona, Barbara, Tadic, Vera, Houlden, Henry, Münchau, Alexander, Lohmann, Katja (2023) Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. International Journal of Molecular Sciences, 24 (3) 1874 doi:10.3390/ijms24031874 | ||
| In | (2023, January) International Journal of Molecular Sciences Vol. 24 (3) MDPI AG | ||
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