Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 3
Results: 8
Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 271, doi. 10.1007/s00439-019-01988-9
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- Publication type:
- Article
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
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- Publication type:
- Article
A response to “Personalised medicine and population health: breast and ovarian cancer”.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 241, doi. 10.1007/s00439-019-01983-0
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- Publication type:
- Article
Author response to "a response to 'personalised medicine and population health: breast and ovarian cancer'".
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 291, doi. 10.1007/s00439-019-01981-2
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- Publication type:
- Article
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 231, doi. 10.1007/s00439-019-01980-3
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- Publication type:
- Article
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 221, doi. 10.1007/s00439-019-01979-w
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- Publication type:
- Article
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 211, doi. 10.1007/s00439-019-01978-x
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- Publication type:
- Article