Lv22
128 积分 2025-08-06 加入
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
7小时前
待确认
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1
4天前
已完结
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1
4天前
已完结
Revision of diagnosis in a child with type 1 diabetes mellitus due to appropriate genetic testing - Wolfram Syndrome
5天前
已完结
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation
12天前
已完结
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study
13天前
已关闭
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study
13天前
已完结
RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up
14天前
已完结
Clinical Manifestations and Long-Term Mortality in <i>Lamin A/C</i> Mutation Carriers From a Japanese Multicenter Registry
18天前
已完结
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson
20天前
已完结
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