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J

Johannes Zschocke

medical university of innbruck
H指数:66
被引数:1.7万

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Indication and diagnostic method selection for invasive prenatal genetic testing - review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing

侵入性产前基因检测的适应症与诊断方法选择——文献综述及奥地利产前基因检测共识会议结论

2026-04-130
OA
Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study

优先考虑欧洲策略,以可持续方式获取癌症领域的高质量遗传咨询:一项德尔菲研究

2026-02-130
OAAI
Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et al

关于“苯丙氨酸羟化酶缺乏症的诊断与管理:美国医学遗传学与基因组学学院(ACMG)2023年循证临床指南”的通信,由Smith等人撰写

2026-01-060
PRE
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications

线粒体3-羟基-3-甲基戊二酰辅酶A合酶缺乏症:从代谢到临床意义

2025-06-110
OA
DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi

DNA甲基化阵列分析可识别皮肤黑色素瘤的生物学亚群,并揭示与良性黑素细胞痣的广泛差异

2025-02-210
OAAI
Knock-out of dipeptidase CN2 in human proximal tubular cells disrupts dipeptide and amino acid homeostasis and para- and transcellular solute transport
2024-03-221
OA