検索結果 - Melanie Nemitz‐Kliemchen
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Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes 著者: Ria Schönauer, Sebastian Baatz, Melanie Nemitz‐Kliemchen, Valeska Frank, Friederike Petzold, Sebastian Sewerin, Bernt Popp, Johannes Münch, Steffen Neuber, Carsten Bergmann, Jan Halbritter
出版事項 2020Artigo
関連主題
Autosomal dominant polycystic kidney disease
Bioinformatics
Biology
Disease
Exome sequencing
Exon
Gene
Genetic counseling
Genetic heterogeneity
Genetic testing
Genetics
Internal medicine
Medicine
Multiplex ligation-dependent probe amplification
Mutation
Oncology
PKD1
Phenocopy
Phenotype
Polycystic kidney disease