Lv5
840 积分 2024-09-21 加入
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
7小时前
已完结
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
7小时前
已完结
Características inmunológicas claves en la fisiopatología de la sepsis. Infectio
13小时前
已完结
From karyotypes to precision genomics in 9p deletion and duplication syndromes
13小时前
已完结
Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes
13小时前
已完结
Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions
14小时前
已完结
Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome
14小时前
已完结
Disruption of the topological associated domain at Xp21.2 is related to gonadal dysgenesis: A general mechanism of pathogenesis
1天前
已完结
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11
5天前
已完结
eP326: Genome sequencing reveals BHLHA9 gene duplication as cause of multi-generational split-hand/foot malformation with long bone deficiency
20天前
已完结
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