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Rahul Krishnaraj

Showing results (1-10 of 6) with videos related to

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Human Mutation|May 26, 2017
RettBASE: Rett syndrome database updateRahul Krishnaraj, Gladys Ho, John Christodoulou
Human Mutation|August 6, 2019
Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targetsRahul Krishnaraj, Florencia Haase, Bronte Coorey, et al.
Neurology|October 23, 2016
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorderStephanie Fehr, Kingsley Wong, Richard Chin, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
NPJ Genomic Medicine|March 5, 2021
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesHope A Tanudisastro, Katherine Holman, Gladys Ho, et al.
American Journal of Human Genetics|November 4, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretationEmma Tudini, James Andrews, David M Lawrence, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Human Mutation|May 26, 2017
RettBASE: Rett syndrome database updateRahul Krishnaraj, Gladys Ho, John Christodoulou
Human Mutation|August 6, 2019
Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targetsRahul Krishnaraj, Florencia Haase, Bronte Coorey, et al.
Neurology|October 23, 2016
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorderStephanie Fehr, Kingsley Wong, Richard Chin, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
NPJ Genomic Medicine|March 5, 2021
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesHope A Tanudisastro, Katherine Holman, Gladys Ho, et al.
American Journal of Human Genetics|November 4, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretationEmma Tudini, James Andrews, David M Lawrence, et al.
Pageof 1