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7976 积分 2022-04-29 加入
[Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]
1天前
已完结
Phenotypic variability associated with 14 splice-site mutations in the NF2 gene
6天前
已完结
Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis
8天前
已完结
Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes
9天前
已完结
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
9天前
已完结
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes
9天前
已完结
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes
9天前
已完结
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients
12天前
已完结
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center
15天前
已完结
Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type Ⅵ
16天前
已完结
Solvation-Shell Engineering Enables Additive-Dominated Coordination for Stable Silicon Anodes Under Minimal Salt Conditions
13小时前
已采纳
Axially Wired Single‐Site Catalyst Enabled Ampere‐Level Electrocatalytic Ammonia Synthesis From Nitrate
13小时前
已采纳
T lymphocyte membrane-decorated epigenetic nanoinducer of interferons for cancer immunotherapy
21天前
已采纳
T cell killing does not require the formation of a stable mature immunological synapse
21天前
已采纳
Hydrazone-Linked Nanoporous Covalent Organic Framework for the Selective Detection and Efficient Removal of Chromium(III)
21天前
已采纳
1.5 μm polarization coherent lidar incorporating time-division multiplexing
21天前
已采纳
Temperature-insensitive and fabrication-tolerant coarse wavelength division (de)multiplexing on a silica platform using an angled multimode interferometer
21天前
已采纳
Fatigue resistant lead-free multilayer ceramic capacitors with ultrahigh energy density
1个月前
已采纳
The TRPV1-PKM2-SREBP1 axis maintains microglial lipid homeostasis in Alzheimer’s disease
1个月前
已采纳
Stabilizing Ti 3 C 2 T x MXene flakes in air by removing confined water
1个月前
已采纳
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