Lv2
120 积分 2024-08-13 加入
A conserved function of Pkhd1l1, a mammalian hair cell stereociliary coat protein, in regulating hearing in zebrafish
6小时前
已完结
Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss
6小时前
已完结
Clinical features and functional analysis of novel SCN9A variants causing congenital insensitivity to pain
2个月前
已关闭
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
2个月前
已完结
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
2个月前
已完结
An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant
3个月前
已完结
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
3个月前
已完结
Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism
3个月前
已关闭
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
3个月前
已关闭
Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy
3个月前
已完结
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