Lv2
176 积分 2024-05-16 加入
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
9天前
已完结
Analysis of initial seizure characteristics in patients with infantile onset genetic epilepsy
9天前
已完结
A Screening test for the prediction of Dravet syndrome before one year of age
1个月前
已关闭
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
1个月前
已关闭
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation
1个月前
已完结
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
1个月前
已完结
A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm
1个月前
已关闭
Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia
1个月前
已完结
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
1个月前
已完结
Impact of PathogenicFBN1Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome
1个月前
已关闭
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