المؤلفون: Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Health service use, Costs, Ataxia, Specialist centre, Medicine

العلاقة: https://doi.org/10.1186/s13023-023-02971-4Test; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/73a4cd848505400d97c064c0db95d331Test

الإتاحة: https://doi.org/10.1186/s13023-023-02971-4Test
https://doaj.org/article/73a4cd848505400d97c064c0db95d331Test

المؤلفون: Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Ataxia, Specialist centre, Care pathway, Patient survey, Rare diseases, Medicine

العلاقة: https://doi.org/10.1186/s13023-023-02907-yTest; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/e065d538ca3d4f04a022a5f8a436d69dTest

الإتاحة: https://doi.org/10.1186/s13023-023-02907-yTest
https://doaj.org/article/e065d538ca3d4f04a022a5f8a436d69dTest

المؤلفون: Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer

المصدر: Genes; Volume 13; Issue 10; Pages: 1761

مصطلحات موضوعية: Kabuki syndrome, Niikawa–Kuroki syndrome, transcription, KMT2D, KDM6A

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13101761Test

الإتاحة: https://doi.org/10.3390/genes13101761Test

المؤلفون: Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer

المصدر: Genes, Vol 13, Iss 10, p 1761 (2022)

مصطلحات موضوعية: Kabuki syndrome, Niikawa–Kuroki syndrome, transcription, KMT2D, KDM6A, Genetics, QH426-470

العلاقة: https://www.mdpi.com/2073-4425/13/10/1761Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/a1103e11d8e14b2f9d27a99fca059002Test

الإتاحة: https://doi.org/10.3390/genes13101761Test
https://doaj.org/article/a1103e11d8e14b2f9d27a99fca059002Test

المؤلفون: Mr (j: K (j, Deborah Hoffman, I. Benjamini, R. Lyons

المساهمون: The Pennsylvania State University CiteSeerX Archives

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.338.4254Test

المؤلفون: Deborah Hoffman, N. Friedman, D. Ornstein, Adv In

المساهمون: The Pennsylvania State University CiteSeerX Archives

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.338.424Test