Nadina Ortiz Brüchle

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle et al. · The American Journal of Human Genetics · 2008 · 331 citations · Full text

Life Sciences, Developmental Biology, Genetics +14

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

Carsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle et al. · Journal of the American Society of Nephrology · 2011 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations of the <i>CEP290</i> gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Valeska Frank, Anneke I. den Hollander, Nadina Ortiz Brüchle et al. · Human Mutation · 2007 · 159 citations

Life Sciences, Genetics, Molecular Genetics +15

Liquid biopsy in colon cancer: comparison of different circulating DNA extraction systems following absolute quantification of <i>KRAS</i> mutations using Intplex allele-specific PCR

Vera Kloten, Nadine Rüchel, Nadina Ortiz Brüchle et al. · Oncotarget · 2017 · 72 citations · Full text

Medicine, Oncology, Pathology +17

RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4

Nadina Ortiz Brüchle, Jorge Frank, Valeska Frank et al. · Journal of Investigative Dermatology · 2007 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7