Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 26235987 title "Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development" provenance.
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- 2920211 title "A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda" provenance.
- 24838796 title "De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome" provenance.
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- 26744326 title "A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium." provenance.
- 25728775 title "De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay." provenance.
- 26833328 title "De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations." provenance.
- 24325358 title "A dominant-negative GFI1B mutation in the gray platelet syndrome." provenance.
- 24951542 title "A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family." provenance.
- 26299366 title "Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss" provenance.
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- dataset_extraction title "Software Generated." provenance.
- dataset_extraction title "Software Generated." provenance.
- dataset_extraction title "Software Generated." provenance.
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- LIDDI_resource:SID0011_SID0461_EID4963 title "DDI between mercaptopurine and doxorubicin - Event - Neutropenia." assertion.
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