Lv6
2670 积分 2022-11-01 加入
Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan
10天前
已完结
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities
11天前
已完结
Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis
12天前
已完结
Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review
15天前
已完结
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies
19天前
已完结
Molecular insights into genodermatoses: Genetic findings from 43 patients
24天前
已完结
Clinical features of patients with mutations in genes for nanophthalmos
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
The Coexistence of TRPV6 Variants With Other Pancreatitis‐Associated Genes Affects Pediatric‐Onset Pancreatitis
1个月前
已完结
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
1个月前
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