Found: 11
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Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1555, doi. 10.1007/s00439-020-02196-6
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- Article
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1632, doi. 10.1002/ajmg.a.63182
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- Article
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 521, doi. 10.1002/ajmg.a.61432
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- Article
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2803, doi. 10.1002/ajmg.a.40500
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- Article
Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B.
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- Congenital Anomalies, 2020, v. 60, n. 6, p. 189, doi. 10.1111/cga.12383
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- Article
Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction.
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- Congenital Anomalies, 2020, v. 60, n. 1, p. 10, doi. 10.1111/cga.12325
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- Article
De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome.
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- Congenital Anomalies, 2019, v. 59, n. 6, p. 193, doi. 10.1111/cga.12322
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- Article
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00142-0
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- Article
Novel LAMA2 variants identified in a patient with white matter abnormalities.
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- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0103-5
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- Article
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00289-6
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- Article
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2119, doi. 10.1002/humu.24108
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- Article