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- 2022
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Mark
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
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- Contribution to journal › Article
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Mark
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
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- Contribution to journal › Article
- 2020
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Mark
SLC20A1 Is Involved in Urinary Tract and Urorectal Development
(
- Contribution to journal › Article
- 2017
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Mark
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
(
- Contribution to journal › Article
- 2015
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Mark
Variation in Glucose Homeostasis Traits Associated With P2RX7 Polymorphisms in Mice and Humans
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- Contribution to journal › Article
- 2014
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Mark
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
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- Contribution to journal › Article
- 2013
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Mark
Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity
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- Contribution to journal › Article