“Karyotype”的搜索结果，显示 21-30 项，共有 1011 项
患有这种遗传病的女性有三条而不是两条X 染色体。症状可能较轻微，或包括发育延迟和学习障碍。
Jacksonville, Fla., Scottsdale/Phoenix, Ariz. The purpose of this study is to determine the prevalence of genetic mutations in cancer patients from various ...
The purpose of this study is to determine the time from intramuscular injection to the time of first fetal movement after a fetal surgery procedure. Eliminating ...
To establish a repository of DNA samples collected prospectively from patients with inherited myopathies of unknown molecular and/or biochemical defect.
The purpose of this study is to confirm detection of the H3K27M mutation in patient biofluids (CSF, blood, urine, saliva) and uncover the molecular histone ...
The purpose of this study is to evaluate plasma biomarkers of vascular function and inflammation in patients with newly-diagnosed Obstructive Sleep Apnea ...
Rochester, Minn. The purpose of this study is to provide expanded access of patisiran to patients with hereditary transthyretin-mediated amyloidosis (hATTR).
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