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Alice Krebsová

institute of clinical and experimental medicine
H指数:16
被引数:1,834

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Current management of transition and multidisciplinary care of patients with inherited and rare cardiomyopathies in Europe: results of the European Reference Network for rare and low prevalence complex diseases of the heart

欧洲对遗传性和罕见心肌病患者的过渡期管理和多学科护理现状:心脏罕见和低患病率复杂疾病欧洲参考网络的结果

2025-07-010
PRE
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

即使在没有其他Danon病迹象的体细胞镶嵌携带者中,色素性视网膜病也可以表明存在致病性LAMP2变体

2020-06-1310
PREAI
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
2020-03-2925
OAAI
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
2019-02-2830
OAAI
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor (vol 8, pg 400, 2017)
2017-09-258
OAAI
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
2017-06-1385
OAAI
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
2013-09-0114
OAAI