Lv4
570 积分 2025-05-27 加入
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
1天前
待确认
Expanded Non-Invasive Prenatal Screening for Dominant Single-Gene Disorders: Proof-of-concept, Performance, and Challenges
8天前
已完结
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
16天前
已完结
FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome
22天前
已完结
Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development
23天前
已完结
Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al
1个月前
已完结
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) (Genetics in Medicine, (2020), 22, 2, (245-257), 10.1038/s41436-019-0686-8)
1个月前
已完结
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
1个月前
已完结
Chimerism in health and potential implications on behavior: A systematic review
1个月前
已完结
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
1个月前
已完结
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