Lv51
810 积分 2024-09-21 加入
Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene
3小时前
待确认
Proximal 10q trisomy: a new case with anal atresia
2天前
已完结
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
13天前
已完结
Use of growth hormone in region 19p13.3 microduplication syndrome in girl with central early puberty: a clinical case report
14天前
已完结
A familial rearrangement resulting in pure duplication of distal 19p13.3
14天前
已完结
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
16天前
已完结
Prevalence and prognostic significance of IKZF1 deletion in paediatric acute lymphoblastic leukemia: A systematic review and meta-analysis
25天前
已完结
Copy number variants associated with epilepsy from gene expression microarrays
27天前
已完结
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
29天前
已完结
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis
1个月前
已完结
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