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M

Mikhail Skoblov

research centre for medical genetics
H指数:18
被引数:1,727

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Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease Severity

SLC26A2相关骨骼发育不良表型谱在115例患者的队列研究:一种新型复合等位基因修饰疾病严重程度的证据

2026-10-050
PRE
The Russian FSHD registry: a first look at the cohort

俄罗斯FHSF登记研究:对队列的初步观察

2026-08-080
PRE
Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient

源自着色性干皮病C组患者的诱导多能干细胞的核型分析

2025-12-140
OAAI
Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype
2024-12-060
OA