Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Works matching IS 03406717 AND DT 2020 AND VI 139 AND IP 12
Results: 8
1
2
The molecular genetic basis of atrial fibrillation.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1485, doi. 10.1007/s00439-020-02203-w
- By:
- Publication type:
- Article
3
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1565, doi. 10.1007/s00439-020-02197-5
- By:
- Publication type:
- Article
4
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
- By:
- Publication type:
- Article
5
The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1541, doi. 10.1007/s00439-020-02195-7
- By:
- Publication type:
- Article
6
Study of telomere length in men who carry a fragile X premutation or full mutation allele.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1531, doi. 10.1007/s00439-020-02194-8
- By:
- Publication type:
- Article
7
The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1513, doi. 10.1007/s00439-020-02193-9
- By:
- Publication type:
- Article
8
A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1499, doi. 10.1007/s00439-020-02192-w
- By:
- Publication type:
- Article