Lv11
50 积分 2024-10-30 加入
Mutationofthe fumarasegene in two siblings with progressive encephalopathy and fumarase deficiency
4小时前
求助中
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
17天前
已关闭
Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient
21天前
已完结
Unusual phenotype of heterozygous LOF mutation in IKZF1, with common variable immunodeficiency presenting initially as immune thrombocytopenia: A case report
21天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
24天前
已完结
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
24天前
已完结
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes
25天前
已完结
The utility of multiple genomic technologies for interpretation of modern next generation sequencing: A novel case of three FANCA gene variants resulting in autosomal recessive Fanconi anaemia
29天前
已完结
Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction
30天前
已完结
Profiling Fanconi Anemia Gene Mutations among Iranian Patients
1个月前
已完结
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