Found: 18
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Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer's Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an RGS7 Stop-Loss Variant.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6377, doi. 10.3390/ijms24076377
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- Publication type:
- Article
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1101, doi. 10.1002/ajmg.a.63112
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- Publication type:
- Article
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2351, doi. 10.1002/ajmg.a.62763
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- Article
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2‐opathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1509, doi. 10.1002/ajmg.a.62111
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- Article
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 508, doi. 10.1002/ajmg.a.61431
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- Article
Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants.
- Published in:
- 2022
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- Publication type:
- Case Study
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.
- Published in:
- Neurodegenerative Diseases, 2019, v. 19, n. 2, p. 96, doi. 10.1159/000502906
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- Publication type:
- Article
Correspondence to "Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease".
- Published in:
- Pediatric Cardiology, 2024, v. 45, n. 2, p. 454, doi. 10.1007/s00246-023-03368-7
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- Article
External hydrocephalus as a prenatal feature of noonan syndrome.
- Published in:
- Annals of Human Genetics, 2021, v. 85, n. 6, p. 249, doi. 10.1111/ahg.12436
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- Article
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility.
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- Biomedicines, 2023, v. 11, n. 7, p. 2062, doi. 10.3390/biomedicines11072062
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- Article
Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
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- Diagnostics (2075-4418), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/diagnostics12071520
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- Publication type:
- Article
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.
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- Diagnostics (2075-4418), 2022, v. 12, n. 6, p. 1328, doi. 10.3390/diagnostics12061328
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- Publication type:
- Article
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis.
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- Diagnostics (2075-4418), 2022, v. 12, n. 3, p. 575, doi. 10.3390/diagnostics12030575
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- Article
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 224, doi. 10.3390/diagnostics11020224
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- Article
Neonatal Marfan Syndrome by Inherited Mutation.
- Published in:
- 2021
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- Publication type:
- Letter
Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1046, doi. 10.1002/humu.23767
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- Publication type:
- Article
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
- Published in:
- 2023
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- Publication type:
- Case Study
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.
- Published in:
- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0211170
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- Publication type:
- Article