Elisabeth A. M. Cornelissen

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Karl P. Schlingmann, Justyna Ruminska, Martin Kaufmann et al. · Journal of the American Society of Nephrology · 2015 · 270 citations · Full text

Autosomal-recessive Mutations, Metabolic Disorder, Genetics +19

Prevention of vitamin K deficiency bleeding: efficacy of different multiple oral dose schedules of vitamin K

Elisabeth A. M. Cornelissen, R. von Kries, P.M. Loughnan et al. · European Journal of Pediatrics · 1997 · 181 citations

Medicine, Vitamin K, Hematology +1

<i>C14ORF179</i> encoding IFT43 is mutated in Sensenbrenner syndrome

Heleen H. Arts, Ernie M.H.F. Bongers, Dorus A. Mans et al. · Journal of Medical Genetics · 2011 · 144 citations · Full text

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

J. de Vries, J.L. Yntema, C.E. van Die et al. · European Journal of Pediatrics · 2009 · 130 citations · Full text

Renal Complications, Urology, Jeune Syndrome +9

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

Nayia Nicolaou, Sara L. Pulit, Isaäc J. Nijman et al. · Kidney International · 2015 · 111 citations

Biology, Candidate Genes, Burden Analysis +11