Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 8
Results: 8
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
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- Human Genetics, 2017, v. 136, n. 8, p. 921, doi. 10.1007/s00439-017-1821-8
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- Article
Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility.
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- Human Genetics, 2017, v. 136, n. 8, p. 975, doi. 10.1007/s00439-017-1822-7
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- Article
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.
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- Human Genetics, 2017, v. 136, n. 8, p. 941, doi. 10.1007/s00439-017-1823-6
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- Article
Analysis of case-parent trios for imprinting effect using a loglinear model with adjustment for sex-of-parent-specific transmission ratio distortion.
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- Human Genetics, 2017, v. 136, n. 8, p. 951, doi. 10.1007/s00439-017-1824-5
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- Article
Regulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis.
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- Human Genetics, 2017, v. 136, n. 8, p. 963, doi. 10.1007/s00439-017-1825-4
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- Article
A cis-eQTL genetic variant of the cancer-testis gene CCDC116 is associated with risk of multiple cancers.
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- Human Genetics, 2017, v. 136, n. 8, p. 987, doi. 10.1007/s00439-017-1827-2
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- Article
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
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- 2017
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- Erratum
A genetic risk score is differentially associated with migraine with and without aura.
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- Human Genetics, 2017, v. 136, n. 8, p. 999, doi. 10.1007/s00439-017-1816-5
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- Article