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 · 328 citations · Full text

Meckel-gruber-like Syndrome, Developmental Biology, Renal-hepatic-pancreatic Dysplasia +7

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 · 229 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +26

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 · 157 citations

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 · 73 citations · Full text

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 · 51 citations · Full text

Furin-like Cysteine-rich Domains, Genetics, Major Gene +5