Pages that link to "Q56856022"
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The following pages link to Casper Shyr (Q56856022):
Displaying 16 items.
- RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement (Q24315651) (← links)
- JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles (Q30486475) (← links)
- Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors (Q30724946) (← links)
- The genotypic and phenotypic spectrum of PIGA deficiency (Q30935460) (← links)
- Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis (Q34146310) (← links)
- Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking (Q34254182) (← links)
- FLAGS, frequently mutated genes in public exomes (Q34707985) (← links)
- Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms (Q35579901) (← links)
- Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation (Q37518618) (← links)
- A novel recurrent mutation in ATP1A3 causes CAPOS syndrome (Q37607672) (← links)
- Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood (Q37634124) (← links)
- Usability study of clinical exome analysis software: top lessons learned and recommendations (Q39186678) (← links)
- Exome sequencing pilot study in children with carbamazepine-induced serious skin reactions (Q46062084) (← links)
- Correction to: FLAGS, frequently mutated genes in public exomes (Q47163680) (← links)
- Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target? (Q50307952) (← links)
- Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy. (Q53753835) (← links)