Lv5
870 积分 2023-07-23 加入
Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease
1天前
已完结
Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree
1天前
已完结
Congenital heart defects in the recurrent 2q13 deletion syndrome
3天前
已完结
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
8天前
已完结
Genotype‐phenotype analysis of MT‐ATP6 ‐associated Leigh syndrome
9天前
已完结
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
11天前
已完结
A Clinical Conundrum with Diagnostic and Therapeutic Challenge: a Tale of Two Disorders in One Case
11天前
已完结
Genetic Screening of Patients with Sporadic Alzheimer’s Disease and Frontotemporal Lobar Degeneration in the Chinese Population
12天前
已完结
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population
18天前
已完结
Ocular findings and genetic test in Alström syndrome in childhood
22天前
已完结
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