Lv21
160 积分 2021-12-02 加入
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
14天前
已完结
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
14天前
已完结
Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study
23天前
已完结
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
26天前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
30天前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
1个月前
已完结
Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development
1个月前
已完结
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
1个月前
已完结
Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
1个月前
已完结
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
1个月前
已完结
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