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Rini Pauly

Showing results (21-30 of 30) with videos related to

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Biology|May 26, 2018
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome PresentationClemer Abad, Melissa M Cook, Lei Cao, et al.
Nucleic Acids Research|January 31, 2016
Gene integrated set profile analysis: a context-based approach for inferring biological endpointsJeanne Kowalski, Bhakti Dwivedi, Scott Newman, et al.
Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
Nature Communications|November 4, 2017
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndromeChong Li, Jennifer M Brazill, Sha Liu, et al.
Nature Communications|January 20, 2018
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndromeChong Li, Jennifer M Brazill, Sha Liu, et al.
NPJ Precision Oncology|September 6, 2022
Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumorsErin R Bonner, Robin Harrington, Augustine Eze, et al.
Genes|February 27, 2026
Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 IndividualsEmily Payne, Bridgette A Moffitt, Lindsay M Oberman, et al.
Clinical Genetics|May 18, 2023
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individualsBridgette A Moffitt, Lindsay M Oberman, Laura Beamer, et al.
Cancer Research|March 15, 2014
CHD7 expression predicts survival outcomes in patients with resected pancreatic cancerLauren E Colbert, Aleksandra V Petrova, Sarah B Fisher, et al.
JCO Precision Oncology|November 6, 2025
Functional Characterization and a Real-World Clinical Laboratory Pilot of the Foundation for the National Institutes of Health Circulating Tumor DNA Quality Control MaterialsCloud P Paweletz, Thomas D Forbes, Laura Yee, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Biology|May 26, 2018
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome PresentationClemer Abad, Melissa M Cook, Lei Cao, et al.
Nucleic Acids Research|January 31, 2016
Gene integrated set profile analysis: a context-based approach for inferring biological endpointsJeanne Kowalski, Bhakti Dwivedi, Scott Newman, et al.
Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
Nature Communications|November 4, 2017
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndromeChong Li, Jennifer M Brazill, Sha Liu, et al.
Nature Communications|January 20, 2018
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndromeChong Li, Jennifer M Brazill, Sha Liu, et al.
NPJ Precision Oncology|September 6, 2022
Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumorsErin R Bonner, Robin Harrington, Augustine Eze, et al.
Genes|February 27, 2026
Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 IndividualsEmily Payne, Bridgette A Moffitt, Lindsay M Oberman, et al.
Clinical Genetics|May 18, 2023
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individualsBridgette A Moffitt, Lindsay M Oberman, Laura Beamer, et al.
Cancer Research|March 15, 2014
CHD7 expression predicts survival outcomes in patients with resected pancreatic cancerLauren E Colbert, Aleksandra V Petrova, Sarah B Fisher, et al.
JCO Precision Oncology|November 6, 2025
Functional Characterization and a Real-World Clinical Laboratory Pilot of the Foundation for the National Institutes of Health Circulating Tumor DNA Quality Control MaterialsCloud P Paweletz, Thomas D Forbes, Laura Yee, et al.
Pageof 3