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Yunjia Chen

University of Toronto
H指数:21
被引数:2,082

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Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience
2021-11-153
OAAI
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenicNF1/SPRED1variant negative children suspected of sporadic neurofibromatosis type 1

体质错配修复缺陷是怀疑散发性1型神经纤维瘤病的病原学nf1/spred1变异阴性儿童的0.41% 诊断

2020-12-0114
OAAI
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
2019-10-2692
OAAI
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
2019-04-0170
OAAI
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation (vol 21, pg 764, 2019)
2019-03-011
OAAI