Association of AHSG with alopecia and mental retardation (APMR) syndrome.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 287, doi. 10.1007/s00439-016-1756-5
- By:
- Publication type:
- Article
Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 3
Results: 7
1
2
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 297, doi. 10.1007/s00439-017-1757-z
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- Publication type:
- Article
3
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 307, doi. 10.1007/s00439-017-1758-y
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- Publication type:
- Article
4
Novel FAM134B mutations and their clinicopathological significance in colorectal cancer.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 321, doi. 10.1007/s00439-017-1760-4
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- Publication type:
- Article
5
Erratum to: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability.
- Published in:
- 2017
- By:
- Publication type:
- Erratum
6
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 339, doi. 10.1007/s00439-017-1762-2
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- Publication type:
- Article
7
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 275, doi. 10.1007/s00439-016-1754-7
- By:
- Publication type:
- Article