Found: 8
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Genetic Heterogeneity and Gene Diversity at ABO and Rh Loci in the Human Population of Southern Punjab, Pakistan.
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- Pakistan Journal of Zoology, 2013, v. 45, n. 5, p. 1185
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- Article
Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.
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- Archives of Dermatological Research, 2006, v. 298, n. 3, p. 135, doi. 10.1007/s00403-006-0671-3
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- Article
Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene.
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- Archives of Dermatological Research, 2005, v. 297, n. 5, p. 226, doi. 10.1007/s00403-005-0593-5
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- Article
Mutation of ATF6 causes autosomal recessive achromatopsia.
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- Human Genetics, 2015, v. 134, n. 9, p. 941, doi. 10.1007/s00439-015-1571-4
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- Article
Novel mutations in G protein-coupled receptor gene ( P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
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- Human Genetics, 2008, v. 123, n. 5, p. 515, doi. 10.1007/s00439-008-0507-7
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- Article
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.
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- European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1268, doi. 10.1038/sj.ejhg.5201492
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- Article
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
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- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3289
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- Article
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0183-0
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- Article