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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
- Published in:
- Nature Communications, 2016, v. 7, n. 7, p. 11920, doi. 10.1038/ncomms11920
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- Article
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 55, doi. 10.1038/ejhg.2012.117
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- Article
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1133, doi. 10.1038/ejhg.2011.101
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- Article
A survey of tools for variant analysis of next-generation genome sequencing data.
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- Briefings in Bioinformatics, 2014, v. 15, n. 2, p. 256, doi. 10.1093/bib/bbs086
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- Article
MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy.
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- Clinical Genetics, 2019, v. 95, n. 1, p. 182, doi. 10.1111/cge.13462
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- Article
Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy.
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- Annals of Human Genetics, 2012, v. 76, n. 4, p. 326, doi. 10.1111/j.1469-1809.2012.00710.x
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- Article
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2465, doi. 10.1002/ajmg.a.34205
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- Article
The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 103, doi. 10.1002/ajmg.a.37383
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- Article
Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3176, doi. 10.1002/ajmg.a.36176
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- Article
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.539
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- Article