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Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
Spreiz A, Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M, Fauth C, Haberlandt E, Kim CA, Kulikowski LD, Meloni VA, Utermann G, Zschocke J, Melaragno MI, Kotzot D. Spreiz A, et al. Among authors: wellek b. J Pediatr. 2013 Oct;163(4):1174-8.e3. doi: 10.1016/j.jpeds.2013.06.005. Epub 2013 Jul 19. J Pediatr. 2013. PMID: 23876976
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Bisschoff IJ, et al. Among authors: wellek b. Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23033313 Free PMC article.
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.
Hallermann C, Mücher G, Kohlschmidt N, Wellek B, Schumacher R, Bahlmann F, Shahidi-Asl P, Theile U, Rudnik-Schöneborn S, Müntefering H, Zerres K. Hallermann C, et al. Among authors: wellek b. Am J Med Genet. 2000 Jan 17;90(2):115-9. doi: 10.1002/(sici)1096-8628(20000117)90:2<115::aid-ajmg5>3.0.co;2-s. Am J Med Genet. 2000. PMID: 10607948 Review.
15 results