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C

Carol A. Wise

university of texas system
H指数:54
被引数:1.2万

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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
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
2024-09-010
PRE
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
2024-01-260
OA
Impaired glycine neurotransmission causes adolescent idiopathic scoliosis
2024-01-163
OAAI
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation
2023-12-012
OAAI
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Kuster-Hauser syndrome
2023-07-013
OAAI
Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization study
2023-06-206
OAAI
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis
2022-07-155
OA
Thousands of induced germline mutations affecting immune cells identified by automated meiotic mapping coupled with machine learning

通过自动减数分裂图谱和机器学习鉴定的数千种诱导的影响免疫细胞的种系突变

2021-07-0610
OA
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
2020-05-0744
OAAI