Pauline Krug

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Jan Halbritter, Albane A. Bizet, Miriam Schmidts et al. · The American Journal of Human Genetics · 2013 · 225 citations · Full text

Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Elsa Seys, Olga Andrini, Mathilde Keck et al. · Journal of the American Society of Nephrology · 2017 · 118 citations · Full text

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

Pauline Krug, Vincent Morinière, Sandrine Marlin et al. · Human Mutation · 2010 · 112 citations · Full text

Genetics, Six5 Genes, Genetic Epidemiology +17

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Wladimir Mauhin, Florence Habarou, Stéphanie Gobin et al. · Orphanet Journal of Rare Diseases · 2017 · 111 citations · Full text

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Marion Failler, Heon Yung Gee, Pauline Krug et al. · The American Journal of Human Genetics · 2014 · 107 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +2