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3260 积分 2021-08-06 加入
Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants
5小时前
求助中
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features
4天前
已完结
Usefulness of a short femur in the in utero detection of skeletal dysplasias
14天前
已完结
High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease
1个月前
已完结
Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review
1个月前
已完结
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome
1个月前
已完结
Neuroinflammation in Alzheimer disease
2个月前
已完结
Subtelomeric imbalances in phenotypically normal individuals
2个月前
已完结
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities
2个月前
已完结
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency
2个月前
已完结
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