Found: 11
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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1109, doi. 10.1007/s00439-021-02283-2
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- Publication type:
- Article
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1077, doi. 10.1007/s00439-021-02280-5
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- Publication type:
- Article
Geographic variation in the polygenic score of height in Japan.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1097, doi. 10.1007/s00439-021-02281-4
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- Publication type:
- Article
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Peter S. Harper: obituary.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1061, doi. 10.1007/s00439-021-02274-3
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- Publication type:
- Article
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1047, doi. 10.1007/s00439-021-02273-4
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- Publication type:
- Article
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1031, doi. 10.1007/s00439-021-02270-7
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- Publication type:
- Article
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
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- Publication type:
- Article
Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 999, doi. 10.1007/s00439-021-02267-2
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- Publication type:
- Article
Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 985, doi. 10.1007/s00439-021-02265-4
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- Publication type:
- Article