Lv11
48 积分 2025-08-23 加入
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]
3小时前
待确认
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies
6天前
已完结
Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants
10天前
已完结
Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings
13天前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
23天前
已完结
Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing
28天前
已完结
Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the ZMPSTE24 gene
1个月前
已完结
Prenatal genetic investigation in pregnancies with oligohydramnios: Results from a single referral medical center
1个月前
已完结
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
1个月前
已完结
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han
1个月前
已完结
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