Jens Koenig

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Hélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano et al. · Nature Genetics · 2012 · 330 citations · Full text

Ion Transport, Hypertonicity, Urology +9

A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport’s syndrome

Burkhard Tönshoff, Lutz T. Weber, Lars Pape et al. · Kidney International · 2020 · 140 citations · Full text

Ophthalmological Aspects of Pierson Syndrome

Cecilie Bredrup, Verena Matejas, Margaret Barrow et al. · American Journal of Ophthalmology · 2008 · 80 citations · Full text

Pierson Syndrome, Ocular Disease, Ophthalmology +3

Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene

Hermine A. van Duyvenvoorde, P.A. van Setten, M.J.E. Walenkamp et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 60 citations · Full text

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

Denise Horn, Dagmar Wieczorek, Kay Metcalfe et al. · European Journal of Human Genetics · 2013 · 46 citations · Full text

Mental Retardation Syndrome, Genetic Disorder, Genetics +8