Publications

Export 3 results:
Filters: Author is Prokisch, Holger  [Clear All Filters]
Journal Article
Lenz D, Smith DEC, Crushell E, Husain RA, Salomons GS, Alhaddad B, Bernstein JA, Bianzano A, Biskup S, Brennenstuhl H, Caldari D, Dikow N, Haack TB, Hanson-Kahn A, Harting I, Horn D, Hughes J, Huijberts M, Isidor B, Kathemann S, Kopajtich R, Kotzaeridou U, Küry S, Lainka E, Laugwitz L, Lupski JR, Posey JE, Reynolds C, Rosenfeld JA, Schröter J, Vansenne F, Wagner M, Weiß C, Wolffenbuttel BHR, Wortmann SB, Kölker S, Hoffmann GF, Prokisch H, Mendes MI, Staufner C. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med. 2020 ;.
Ward-Caviness CK, Huffman JE, Everett K, Germain M, van Dongen J, W Hill D, Jhun MA, Brody JA, Ghanbari M, Du L, Roetker NS, de Vries PS, Waldenberger M, Gieger C, Wolf P, Prokisch H, Koenig W, O'Donnell CJ, Levy D, Liu C, Truong V, Wells PS, Trégouët D-A, Tang W, Morrison AC, Boerwinkle E, Wiggins KL, McKnight B, Guo X, Psaty BM, Sotoodenia N, Boomsma DI, Willemsen G, Ligthart L, Deary IJ, Zhao W, Ware EB, Kardia SLR, van Meurs JBJ, Uitterlinden AG, Franco OH, Eriksson P, Franco-Cereceda A, Pankow JS, Johnson AD, Gagnon F, Morange P-E, de Geus EJC, Starr JM, Smith JA, Dehghan A, Björck HM, Smith NL, Peters A. DNA methylation age is associated with an altered hemostatic profile in a multiethnic meta-analysis. Blood. 2018 ;132(17):1842-1850.
Huemer M, Karall D, Schossig A, Abdenur JE, Jasmi FAl, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015 ;38(5):905-14.