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Page 1
Partial tetrasomy 14 associated with multiple malformations.
Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, Anderlid BM, Graff C, Nordenskjöld A, Nordgren A, Gustavsson P. Winberg J, et al. Among authors: lagerstedt robinson k. Am J Med Genet A. 2013 Jun;161A(6):1284-90. doi: 10.1002/ajmg.a.35887. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613323
Mutational study of the MAMLD1-gene in hypospadias.
Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A. Chen Y, et al. Among authors: lagerstedt robinson k. Eur J Med Genet. 2010 May-Jun;53(3):122-6. doi: 10.1016/j.ejmg.2010.03.005. Epub 2010 Mar 25. Eur J Med Genet. 2010. PMID: 20347055
Chimerism resulting from parthenogenetic activation and dispermic fertilization.
Winberg J, Gustavsson P, Lagerstedt-Robinson K, Blennow E, Lundin J, Iwarsson E, Nordenström A, Anderlid BM, Bondeson ML, Nordenskjöld A, Nordgren A. Winberg J, et al. Among authors: lagerstedt robinson k. Am J Med Genet A. 2010 Sep;152A(9):2277-86. doi: 10.1002/ajmg.a.33594. Am J Med Genet A. 2010. PMID: 20803645
A case with bladder exstrophy and unbalanced X chromosome rearrangement.
Soderhall C, Lundin J, Lagerstedt-Robinson K, Grigelioniene G, Lackgren G, Kockum CC, Nordenskjold A. Soderhall C, et al. Among authors: lagerstedt robinson k. Eur J Pediatr Surg. 2014 Aug;24(4):353-9. doi: 10.1055/s-0033-1349056. Epub 2013 Jun 25. Eur J Pediatr Surg. 2014. PMID: 23801353
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A. Lindstrand A, et al. Among authors: lagerstedt robinson k. J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203977
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G. Tham E, et al. Among authors: lagerstedt robinson k. Eur J Hum Genet. 2016 Feb;24(2):198-207. doi: 10.1038/ejhg.2015.91. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966638 Free PMC article.
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae.
Danielsson A, Anderlid BM, Stödberg T, Lagerstedt-Robinson K, Klackenberg Arrhenius E, Tedroff K. Danielsson A, et al. Among authors: lagerstedt robinson k. Dev Med Child Neurol. 2018 Dec;60(12):1251-1255. doi: 10.1111/dmcn.13939. Epub 2018 Jun 28. Dev Med Child Neurol. 2018. PMID: 29956301 Free article.
63 results