Lv51
840 积分 2024-09-21 加入
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
50分钟前
已完结
Leukoencephalopathy caused by a 17p13.3 microdeletion
2天前
求助中
Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure
2天前
求助中
An adult patient with pulmonary atresia with ventricular septal defect and chromosome 17p13.3 microdeletion including YWHAE gene
2天前
已完结
Diffuse subcortical band heterotopia: Expanding the phenotype associated with the loss of the YWHAE gene
2天前
已完结
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
3天前
已完结
High-throughput mapping of modular regulatory domains in human RNA-binding proteins
5天前
已关闭
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
5天前
已完结
O21: A rapid, novel approach to rare disease and clinical genetic variant discovery using on-flowcell proximity sequencing and haplotype-resolved variant calling
9天前
已关闭
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
14天前
已完结
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