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NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 6, p. 313, doi. 10.1159/000504818
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- Publication type:
- Article
A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 281, doi. 10.1159/000502601
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- Publication type:
- Article
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 259, doi. 10.1159/000492267
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- Article
Hippocampal asymmetry in angiotensin II modulatory effects on learning and memory in rats.
- Published in:
- Acta Neurobiologiae Experimentalis, 2015, v. 75, n. 1, p. 48, doi. 10.55782/ane-2015-2015
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- Publication type:
- Article
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 6, p. 300, doi. 10.1038/jhg.2014.21
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- Publication type:
- Article
UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 204, doi. 10.1002/ajmg.a.36800
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- Publication type:
- Article
Disruption of ERBB2IP Is not Associated with Dystrophic Epidermolysis Bullosa in Both Father and Son Carrying a Balanced 5;13 Translocation.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 125, n. 4, p. 700, doi. 10.1111/j.0022-202X.2005.23875.x
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- Publication type:
- Article
Директни и опосредствани връзки на тъмната тетрада с процъфтяването и възприемания контрол
- Published in:
- Psychological Thought, 2024, v. 14, n. 1, p. 220, doi. 10.37708/psyct.v17i1.873
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- Publication type:
- Article
Genetic abnormalities in marginal zone B-cell lymphoma.
- Published in:
- 2000
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- Publication type:
- journal article