Lv3
370 积分 2021-07-23 加入
Hyperglobulinemia predicts increased risk of mortality in primary Sjögren’s syndrome: Based on a Chinese multicentre registry
4个月前
已完结
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies
5个月前
已完结
Shwachman–Diamond syndrome (SDS) in a preterm neonate
5个月前
已完结
Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in <i>GRK2:</i> A Newly Associated Gene for Jeune Syndrome Phenotype
5个月前
已完结
Prenatal Diagnosis of Jeune Syndrome by Whole‐Exome Sequencing in a Case With Mild Skeletal Changes
5个月前
已完结
Thirteen Years' Progression of Macular Atrophy in a Patient With Jeune Syndrome
5个月前
已完结
THE CASE OF JEUNE SYNDROME AMONG THE PRECARPATHIAN POPULATION
5个月前
已关闭
NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination
5个月前
已完结
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes
5个月前
已完结
The longitudinal association between cognitive impairment and incident visual impairment in a multiethnic Asian population: a prospective cohort study
2年前
已采纳
The longitudinal association between cognitive impairment and incident visual impairment in a multiethnic Asian population: a prospective cohort study
2年前
已驳回
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