Last Updated: 09/26/2026
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Found 5 publications
Assessment of Plasmodium falciparum Artemisinin Resistance Independent of kelch13 Polymorphisms and with Escalating Malaria in Bangladesh.
Journal: mBio
Published: January 25, 2022
Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation.
Journal: Stem cell research
Published: September 09, 2021
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Journal: PLoS computational biology
Published: December 17, 2019
Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report.
Journal: The American journal of case reports
Published: August 09, 2019
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.
Journal: BMC medical genetics
Published: July 18, 2019
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Last Updated: 09/26/2026