Found: 12
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Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1336
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- Article
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1054
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- Article
Genomic and physiological resilience in extreme environments are associated with a secure attachment style.
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- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00869-4
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- Article
Novel SMAD4 mutation causing Myhre syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1835, doi. 10.1002/ajmg.a.36544
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- Article
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low‐risk chronic lymphocytic leukaemia patients.
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- British Journal of Haematology, 2023, v. 202, n. 5, p. 953, doi. 10.1111/bjh.18946
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- Article
Long-term consequences of reduced availability and compensatory supplementation of sialylated HMOs on cognitive capabilities.
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- Frontiers in Cellular Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fncel.2023.1091890
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- Article
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.
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- Neurodegenerative Diseases, 2019, v. 19, n. 2, p. 96, doi. 10.1159/000502906
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- 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
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.
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- Human Mutation, 2022, v. 43, n. 9, p. 1201, doi. 10.1002/humu.24399
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- Article
Polyethylene Micro/Nanoplastics Exposure Induces Epithelial–Mesenchymal Transition in Human Bronchial and Alveolar Epithelial Cells.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 10168, doi. 10.3390/ijms251810168
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- Article
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
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- Molecular Neurobiology, 2022, v. 59, n. 8, p. 4825, doi. 10.1007/s12035-022-02886-4
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- Article
Exposure to 3′Sialyllactose-Poor Milk during Lactation Impairs Cognitive Capabilities in Adulthood.
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- Nutrients, 2021, v. 13, n. 12, p. 4191, doi. 10.3390/nu13124191
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- Article