Lv31
220 积分 2025-04-15 加入
Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome
9小时前
已关闭
Kohlschütter–Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants
10小时前
已完结
Detection of mutations in the RB1 gene by single strand conformation polymorphism (SSCP) analysis, amplification mismatch detection (AMD) analysis and polymerase chain reaction sequencing
1个月前
已关闭
Variant Analysis of F8 in 123 Patients with Hemophilia A: Identification of 23 Novel Variants
1个月前
已关闭
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
1个月前
已完结
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines
1个月前
已关闭
Genetic investigation of patients with tall stature
1个月前
已关闭
Examination of Molecular Dynamic Simulations for Glucokinase (GCK) Mutations in Type 2 Diabetes
2个月前
已关闭
Rapid progress on the vertebrate tree of life
2个月前
已完结
A Novel Mutation of the Gaa Gene in a Patient with Early-Onset Pompe Disease Lacking a Disease-Specific Pathology
2个月前
已关闭
Advantages of ZIFs coated core-shell catalyst in activating persulfate to degrade antibiotics: free radical identification and surface collision pathway mechanism
1个月前
已采纳
Effects of Beads and Shot Peening Intensity on the Surface Integrity and Fatigue Performance of a Stainless Gear Steel
2个月前
已采纳
Effects of Beads and Shot Peening Intensity on the Surface Integrity and Fatigue Performance of a Stainless Gear Steel
2个月前
已撤回
Complement regulators as novel targets for anti-cancer therapy: A comprehensive review
2个月前
已采纳
Low-temperature Solid-state Reaction Synthesis of SrY2O4 with High Near-infrared Reflectance and Low Thermal Conductivity
2个月前
已采纳
Vicinal effect on chlorination of diols
2个月前
已采纳
A New Era for Complement Therapeutics
2个月前
已采纳
Coupled effect of filler and countersurface roughness on the tribological performance of the PEEK-PTFE-steel hybrid wear system
2个月前
已采纳
Vegetation dynamics in Mainland Southeast Asia: Climate and anthropogenic influences
2个月前
已采纳
Serum levels of bone turnover markers including calculation of Z-scores: Data from a Dutch healthy reference cohort
2个月前
已采纳
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