Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
- Published in:
- Human Genetics, 2018, v. 137, n. 3, p. 265, doi. 10.1007/s00439-018-1879-y
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- Publication type:
- Article
Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 3
Results: 8
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De novo apparent loss-of-function mutations in <italic>PRR12</italic> in three patients with intellectual disability and iris abnormalities.
- Published in:
- Human Genetics, 2018, v. 137, n. 3, p. 257, doi. 10.1007/s00439-018-1877-0
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- Publication type:
- Article
3
Inferring causal relationships between phenotypes using summary statistics from genome-wide association studies.
- Published in:
- Human Genetics, 2018, v. 137, n. 3, p. 247, doi. 10.1007/s00439-018-1876-1
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- Publication type:
- Article
4
Correction to: The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
- Published in:
- 2018
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- Publication type:
- Correction Notice
5
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
- Published in:
- Human Genetics, 2018, v. 137, n. 3, p. 231, doi. 10.1007/s00439-018-1874-3
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- Publication type:
- Article
6
Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes.
- Published in:
- Human Genetics, 2018, v. 137, n. 3, p. 203, doi. 10.1007/s00439-018-1873-4
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- Publication type:
- Article
7
Pathway-induced allelic spectra of diseases in the presence of strong genetic effects.
- Published in:
- Human Genetics, 2018, v. 137, n. 3, p. 215, doi. 10.1007/s00439-018-1872-5
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- Publication type:
- Article
8
Genetic and functional analysis of <italic>SHROOM1</italic>-<italic>4</italic> in a Chinese neural tube defect cohort.
- Published in:
- Human Genetics, 2018, v. 137, n. 3, p. 195, doi. 10.1007/s00439-017-1864-x
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- Publication type:
- Article