Found: 10
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New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1396, doi. 10.1002/ajmg.a.37049
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- Article
Over-Expression of Either MECP2_e1 or MECP2_e2 in Neuronally Differentiated Cells Results in Different Patterns of Gene Expression.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0091742
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- Article
Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene.
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- Pakistan Journal of Zoology, 2022, v. 54, n. 3, p. 1215, doi. 10.17582/journal.pjz/20200501060515
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- Article
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
- Published in:
- Human Genetics, 2014, v. 133, n. 11, p. 1419, doi. 10.1007/s00439-014-1475-8
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- Article
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
- Published in:
- Human Genetics, 2014, v. 133, n. 8, p. 975, doi. 10.1007/s00439-014-1438-0
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- Article
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
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- Annals of Human Genetics, 2019, v. 83, n. 4, p. 278, doi. 10.1111/ahg.12307
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- Article
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3172, doi. 10.1093/hmg/ddv069
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- Article
Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.
- Published in:
- Genes, 2022, v. 13, n. 9, p. 1633, doi. 10.3390/genes13091633
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- Article
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
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- Neurogenetics, 2014, v. 15, n. 2, p. 117, doi. 10.1007/s10048-014-0394-0
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- Article
Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57942-x
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- Article