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Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 531, doi. 10.1007/s00439-020-02121-x
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- Article
Low-density lipoprotein receptor-related protein 6-mediated signaling pathways and associated cardiovascular diseases: diagnostic and therapeutic opportunities.
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- Human Genetics, 2020, v. 139, n. 4, p. 447, doi. 10.1007/s00439-020-02124-8
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- Article
Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain.
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- Human Genetics, 2020, v. 139, n. 4, p. 545, doi. 10.1007/s00439-020-02123-9
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- Article
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
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- Human Genetics, 2020, v. 139, n. 4, p. 483, doi. 10.1007/s00439-019-02105-6
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- Article
Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China.
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- Human Genetics, 2020, v. 139, n. 4, p. 473, doi. 10.1007/s00439-019-02103-8
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- Article
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
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- Human Genetics, 2020, v. 139, n. 4, p. 499, doi. 10.1007/s00439-020-02115-9
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- Article
Mosaic loss of human Y chromosome: what, how and why.
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- Human Genetics, 2020, v. 139, n. 4, p. 421, doi. 10.1007/s00439-020-02114-w
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- Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
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- Human Genetics, 2020, v. 139, n. 4, p. 461, doi. 10.1007/s00439-019-02102-9
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- Article
Concurrent hearing and genetic screening in a general newborn population.
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- Human Genetics, 2020, v. 139, n. 4, p. 521, doi. 10.1007/s00439-020-02118-6
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- Article
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
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- Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7
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- Article