Found: 22
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Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 19, p. 2364, doi. 10.3390/cells12192364
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- Publication type:
- Article
Spontaneous Abortion Associated with Zika Virus Infection and Persistent Viremia.
- Published in:
- 2018
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- Publication type:
- case study
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4230, doi. 10.3390/ijms23084230
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- Publication type:
- Article
Reduced mtDNA Copy Number in the Prefrontal Cortex of C9ORF72 Patients.
- Published in:
- Molecular Neurobiology, 2022, v. 59, n. 2, p. 1230, doi. 10.1007/s12035-021-02673-7
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- Publication type:
- Article
Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans.
- Published in:
- Liver International, 2023, v. 43, n. 8, p. 1822, doi. 10.1111/liv.15640
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- Publication type:
- Article
A novel NONO nonsense variant in a fetus with renal abnormalities.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 1, p. 77, doi. 10.1002/pd.6500
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- Publication type:
- Article
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
- Published in:
- Genes, 2023, v. 14, n. 4, p. 813, doi. 10.3390/genes14040813
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- Publication type:
- Article
Special Issue: Genetics of Psychiatric Disease and the Basics of Neurobiology.
- Published in:
- Genes, 2022, v. 13, n. 11, p. 2008, doi. 10.3390/genes13112008
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- Publication type:
- Article
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 557, doi. 10.3390/genes12040557
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- Publication type:
- Article
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.
- Published in:
- Neurodegenerative Diseases, 2016, v. 16, n. 3/4, p. 290, doi. 10.1159/000441566
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- Publication type:
- Article
Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.728952
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- Publication type:
- Article
An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 293, doi. 10.1111/cge.13803
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- Publication type:
- Article
Creatine Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment.
- Published in:
- Nephron, 2023, v. 147, n. 3/4, p. 152, doi. 10.1159/000526368
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- Publication type:
- Article
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI).
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 8, p. 2186, doi. 10.3390/jcm11082186
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- Publication type:
- Article
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.
- Published in:
- Frontiers in Aging Neuroscience, 2023, v. 14, p. 1, doi. 10.3389/fnagi.2022.1073258
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- Publication type:
- Article
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 591, doi. 10.1002/ajmg.a.61999
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- Publication type:
- Article
Paternal transmission of a FMR1 full mutation allele.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2795, doi. 10.1002/ajmg.a.38384
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- Publication type:
- Article
Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients.
- Published in:
- Antioxidants, 2022, v. 11, n. 6, p. 1129, doi. 10.3390/antiox11061129
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- Publication type:
- Article
Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.
- Published in:
- International Journal of Cancer, 2019, v. 144, n. 3, p. 513, doi. 10.1002/ijc.31936
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- Publication type:
- Article
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
- Published in:
- 2022
- By:
- Publication type:
- journal article