Lv41
458 积分 2021-11-30 加入
A Practical Guide to Whole Genome Sequencing in the NICU
1个月前
已完结
ISCN 2024 – An International System for Human Cytogenomic Nomenclature (2024)
4个月前
已完结
Syndromic microphthalmia‐3 caused by a mutation on gene SOX2 in a Colombian male patient
5个月前
已完结
Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway
5个月前
已完结
Clinical utility of genetic testing in patients with dilated cardiomyopathy
6个月前
已完结
[DMGDH gene-related dimethylglycine dehydrogenase deficiency in a case]
8个月前
已完结
[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders]
9个月前
已完结
Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism
10个月前
已完结
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
1年前
已完结
[Clinical practice guidelines for Duchenne muscular dystrophy]
1年前
已完结
Microstructural manipulation and architecture design of carbon-based electrochemical systems
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