Lv1
20 积分 2021-05-22 加入
The genetics and pathogenesis of CAKUT
20小时前
待确认
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
2个月前
已完结
Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
3个月前
已完结
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late‐onset multiple acyl‐CoA dehydrogenase deficiency
3个月前
已完结
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations
3个月前
已完结
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
3个月前
已完结
Developmental and epilepsy spectrum of Poirier–Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature
6个月前
已完结
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
6个月前
已完结
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
6个月前
已完结
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders
6个月前
已完结
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