Lv52
840 积分 2024-09-21 加入
Leukoencephalopathy caused by a 17p13.3 microdeletion
14小时前
求助中
Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure
14小时前
求助中
An adult patient with pulmonary atresia with ventricular septal defect and chromosome 17p13.3 microdeletion including YWHAE gene
18小时前
待确认
Diffuse subcortical band heterotopia: Expanding the phenotype associated with the loss of the YWHAE gene
18小时前
已完结
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
22小时前
已完结
High-throughput mapping of modular regulatory domains in human RNA-binding proteins
2天前
已关闭
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
2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
7天前
已关闭
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
12天前
已完结
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
12天前
已完结
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