Lv22
200 积分 2023-09-15 加入
[Clinical practice guidelines for phenylketonuria]
1小时前
已完结
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31
6天前
已完结
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China
15天前
已完结
The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development
16天前
已完结
Glucokinase mutations in pediatric patients with impaired fasting glucose
21天前
已关闭
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
22天前
已完结
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria
23天前
已关闭
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century
29天前
已完结
Ocular findings and genetic test in Alström syndrome in childhood
30天前
已完结
Arg953* mutation in Periaxin causes CMT4F without nerve hypertrophy on ultrasound imaging: A case report and review of the literature
30天前
已完结
pH Sensor Based on Tilted Fiber Bragg Grating Surface Plasmon Resonance with Polyaniline Reaction Deposition Film Layer
6个月前
已采纳
A Hybrid Photocatalytic System Splits Atmospheric Water to Produce Hydrogen
6个月前
已采纳
10.1007/s11011-021-00753-0
6个月前
已采纳
Genome-Wide Mapping of Oxidative DNA Damage via Engineering of 8-Oxoguanine DNA Glycosylase
6个月前
已采纳
Self-motion perception is sensitized in vestibular migraine: pathophysiologic and clinical implications
6个月前
已采纳
Energy‐Saving Hydrogen Production by Seawater Electrolysis Coupling Sulfion Degradation
1年前
已采纳
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