Lv1
10 积分 2021-05-22 加入
Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
2天前
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天前
已完结
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations
14天前
已完结
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
16天前
已完结
Developmental and epilepsy spectrum of Poirier–Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature
3个月前
已完结
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
3个月前
已完结
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
3个月前
已完结
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders
3个月前
已完结
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation
4个月前
已完结
[Iatrogenic rhabdomyolysis and hypothyroidism revealing Sheehan's syndrome]
6个月前
已关闭
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