Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-021-01194-2
- By:
- Publication type:
- Article
Works matching AU Pappalardo, Xena Giada
Results: 15
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PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
- Published in:
- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0755-2
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- Publication type:
- Article
3
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 11, p. 6529, doi. 10.1007/s10072-022-06247-w
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- Publication type:
- Article
4
Is the Secret of VDAC Isoforms in Their Gene Regulation? Characterization of Human VDAC Genes Expression Profile, Promoter Activity, and Transcriptional Regulators.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7388, doi. 10.3390/ijms21197388
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- Publication type:
- Article
5
Human VDAC pseudogenes: an emerging role for VDAC1P8 pseudogene in acute myeloid leukemia.
- Published in:
- Biological Research, 2023, v. 56, n. 1, p. 1, doi. 10.1186/s40659-023-00446-1
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- Publication type:
- Article
6
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review.
- Published in:
- Neurogenetics, 2024, v. 25, n. 2, p. 69, doi. 10.1007/s10048-023-00742-8
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- Publication type:
- Article
7
Early Life Stress (ELS) Effects on Fetal and Adult Bone Development.
- Published in:
- Children, 2023, v. 10, n. 1, p. 102, doi. 10.3390/children10010102
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- Publication type:
- Article
8
Diagnostic Tools in the Detection of Physical Child Abuse: A Systematic Review.
- Published in:
- Children, 2022, v. 9, n. 8, p. 1257, doi. 10.3390/children9081257
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- Publication type:
- Article
9
4q interstitial and terminal deletion: clinical features comparison in two unrelated children.
- Published in:
- AIMS Medical Science, 2023, v. 10, n. 2, p. 130, doi. 10.3934/medsci.2023011
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- Publication type:
- Article
10
PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?
- Published in:
- 2025
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- Publication type:
- Case Study
11
Voltage-Dependent Anion Channels in Male Reproductive Cells: Players in Healthy Fertility?
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 10, p. 1290, doi. 10.3390/biom14101290
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- Publication type:
- Article
12
Losing DNA methylation at repetitive elements and breaking bad.
- Published in:
- Epigenetics & Chromatin, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13072-021-00400-z
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- Publication type:
- Article
13
VDAC Genes Expression and Regulation in Mammals.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.708695
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- Publication type:
- Article
14
PURA -Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
15
A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1461
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- Publication type:
- Article