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Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT. Renkema GH, et al. Among authors: nikkels pgj. Hum Genet. 2017 Jun;136(6):759-769. doi: 10.1007/s00439-017-1794-7. Epub 2017 Apr 6. Hum Genet. 2017. PMID: 28386624 Free PMC article.
Schneckenbecken dysplasia, radiology, and histology.
Nikkels PG, Stigter RH, Knol IE, van der Harten HJ. Nikkels PG, et al. Pediatr Radiol. 2001 Jan;31(1):27-30. doi: 10.1007/s002470000357. Pediatr Radiol. 2001. PMID: 11200994
Helicobacter heilmannii gastritis caused by cat to child transmission.
van Loon S, Bart A, den Hertog EJ, Nikkels PG, Houwen RH, De Schryver JE, Oudshoorn JH. van Loon S, et al. J Pediatr Gastroenterol Nutr. 2003 Mar;36(3):407-9. doi: 10.1097/00005176-200303000-00021. J Pediatr Gastroenterol Nutr. 2003. PMID: 12604984 No abstract available.
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.
Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, van Eerde AM, Pfundt R, Terhal PA, van der Zwaag B, Nikkels PG, Sachs N, Goldschmeding R, Knoers NV, Renkema KY, Sonnenberg A. Nicolaou N, et al. J Clin Invest. 2012 Dec;122(12):4375-87. doi: 10.1172/JCI64100. Epub 2012 Nov 1. J Clin Invest. 2012. PMID: 23114595 Free PMC article.
232 results