Found: 13
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Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis(LAH).
- Published in:
- Iranian Journal of Basic Medical Sciences, 2014, v. 17, n. 7, p. 470
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- Article
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
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- Genetics Research, 2023, v. 2023, p. 1, doi. 10.1155/2023/9999660
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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 candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
- Published in:
- Human Genetics, 2018, v. 137, n. 9, p. 735, doi. 10.1007/s00439-018-1928-6
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- Article
DFNB89 , a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 379, doi. 10.1007/s00439-010-0934-0
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- Article
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.
- Published in:
- Human Genetics, 2010, v. 127, n. 4, p. 395, doi. 10.1007/s00439-009-0784-9
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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
Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
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- Congenital Anomalies, 2020, v. 60, n. 4, p. 115, doi. 10.1111/cga.12361
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- Article
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
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- Congenital Anomalies, 2018, v. 58, n. 1, p. 24, doi. 10.1111/cga.12226
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- Article
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.
- Published in:
- Journal of Dermatology, 2011, v. 38, n. 8, p. 755, doi. 10.1111/j.1346-8138.2010.01151.x
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- Article
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
- Published in:
- BioMed Research International, 2021, v. 2021, p. 1, doi. 10.1155/2021/6626015
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- Article
Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.
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- Journal of Oncology, 2011, p. 1, doi. 10.1155/2011/632870
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- Article