Lv1
50 积分 2025-01-11 加入
君
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing
5天前
已关闭
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
7天前
已完结
Duchenne muscular dystrophy and epilepsy
19天前
已关闭
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort
19天前
已完结
Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase
21天前
已完结
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase
21天前
已关闭
Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation
26天前
已关闭
Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis
28天前
已完结
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis
1个月前
已完结
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
1个月前
已完结
皖公网安备34019202002308
