Found: 7
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A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 12, p. 866, doi. 10.1038/jhg.2011.110
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- Article
A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.
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- Archives of Dermatological Research, 2010, v. 302, n. 9, p. 701, doi. 10.1007/s00403-010-1035-6
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- Article
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.
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- Archives of Dermatological Research, 2009, v. 301, n. 8, p. 625, doi. 10.1007/s00403-009-0975-1
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- Article
Novel mutations in the keratin-74 ( KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 419, doi. 10.1007/s00439-010-0938-9
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- Article
Novel mutations in G protein-coupled receptor gene ( P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
- Published in:
- Human Genetics, 2008, v. 123, n. 5, p. 515, doi. 10.1007/s00439-008-0507-7
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- Article
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.
- Published in:
- Congenital Anomalies, 2023, v. 63, n. 4, p. 127, doi. 10.1111/cga.12518
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- Article
Knowledge, Attitudes and Practices Regarding Taeniasis in Pakistan.
- Published in:
- Diseases, 2023, v. 11, n. 3, p. 95, doi. 10.3390/diseases11030095
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- Article