Lv2
152 积分 2024-04-22 加入
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
1天前
待确认
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene
15天前
已完结
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants
1个月前
已完结
Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions
1个月前
已完结
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)
1个月前
已完结
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
3个月前
已完结
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study
3个月前
已完结
Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations
3个月前
已完结
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
3个月前
已完结
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