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Rivka Sukenik-Halevy

meir medical center
H指数:21
被引数:1,347

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱

BRAIN
IF11.7
2025-08-013
OAAI
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

解析DST相关疾病:影响DST-b的双等位基因变异导致先天性肌病

Brain
IF11.7
2025-06-110
PRE
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center
2020-10-015
OAAI
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures
2020-04-0135
OAAI
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications
2017-03-0659
OAAI