Found: 8
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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
- Published in:
- Fetal Diagnosis & Therapy, 2023, v. 50, n. 2, p. 92, doi. 10.1159/000530643
- By:
- Publication type:
- Article
Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03078-0
- By:
- Publication type:
- Article
Blunted circadian variation of blood pressure in individuals with neurofibromatosis type 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02766-7
- By:
- Publication type:
- Article
Pdgfr-α in 1p/19q LOH oligodendrogliomas.
- Published in:
- International Journal of Cancer, 2004, v. 112, n. 6, p. 1081, doi. 10.1002/ijc.20525
- By:
- Publication type:
- Article
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 6, p. 780, doi. 10.1111/cge.13942
- By:
- Publication type:
- Article
Subclassification of Nerve Sheath Tumors by Gene Expression Profiling.
- Published in:
- Brain Pathology, 2004, v. 14, n. 3, p. 258, doi. 10.1111/j.1750-3639.2004.tb00062.x
- By:
- Publication type:
- Article
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 695, doi. 10.3390/genes12050695
- By:
- Publication type:
- Article