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Natasha T. Strande

penn state health
H指数:33
被引数:5,395

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Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis

FNDC1中的罕见错义变异与重度青少年特发性脊柱侧弯相关。

2025-04-290
PRE
Genomic Screening at a Single Health System

单一医疗系统的基因组筛查

2025-03-170
OA
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing

与进行临床外显子测序的儿童和青少年运动性言语表型相关的单基因病

2025-02-010
OAAI
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms
2024-08-231
PRE
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
2024-01-018
OAAI
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening
2023-07-043
OAAI
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population
2023-01-24103
OA
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia
2021-02-0130
OAAI
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

新生儿筛查的基因组测序: NC NEXUS项目的结果

2020-10-0178
OAAI