Lv2
200 积分 2026-06-03 加入
New genotype-phenotype correlations and management recommendations for individuals with RERE variants
1个月前
已完结
Phenotypic Expansion of RERE-Related Disorder (NEDBEH): A Case Report of Two Families
1个月前
已完结
X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant
1个月前
已完结
Follow‐up study of 25 Chinese children with PLA2G6‐associated neurodegeneration
1个月前
已完结
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
1个月前
已完结
Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene
1个月前
已完结
Clinical and molecular spectrum along with genotype–phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey
2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
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