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380 积分 2024-11-05 加入
是要看好多文章的打工人啊
Multiplexed Assays of Variant Effect and Re-classification of TYR Variants in Chinese Oculocutaneous Albinism Patients
20小时前
已完结
[Clinical features and genetic analysis of three children with β-ketothiolase deficiency]
1天前
已完结
Dichorionic diamniotic twin pregnancy after preimplantation genetic testing and single blastocyst transfer
1天前
已完结
[Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene]
4天前
已完结
Secondary findings in 443 exome sequencing data
6天前
已关闭
A Clinical, Genomic and Proteomic Approach for the Characterization of Fanconi Anemia in Adolescent and Young Adult (AYA) Patients : A Single Center Study of 55 Patients from a National Bone Marrow Failure Referral Center
7天前
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Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
8天前
已完结
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP: Figure 1
9天前
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Endocrine System and Inherited Metabolic Diseases
10天前
已完结
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants
20天前
已关闭
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