Lv7
5000 积分 2024-05-06 加入
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited
18天前
已完结
Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures
23天前
已完结
Mutations in KARS cause early‐onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism
28天前
已完结
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease
28天前
已完结
Genetics and Classifications
30天前
已完结
Shall we offer genetic testing for isolated fetal growth restriction with evidence of placental insufficiency?
1个月前
已完结
Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy
1个月前
已完结
Mitochondrial aminoacyl-tRNA synthetases in human disease
1个月前
已完结
Genetics and mechanisms leading to human cortical malformations
2个月前
已完结
Rapid functional RNA Analysis via amniocyte transdifferentiation resolves prenatal variant ambiguity in fetal akinesia syndrome
2个月前
已完结
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