Lv2
110 积分 2022-02-24 加入
Further delineation of theMECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
6个月前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
11个月前
已完结
Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
11个月前
已完结
[Inter- and intrafamilial expression of cleidocranial dysostosis]
1年前
已关闭
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
2年前
已完结
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums
2年前
已完结
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
2年前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
2年前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
2年前
已完结
Additional mutations in argininosuccinate synthetase causing citrullinemia
2年前
已关闭
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