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Clinical variability in acro-cardio-facial-syndrome.
Kariminejad A, Bozorgmehr B, Sedighi Gilani MA, Almadani N, Kariminejad MH. Kariminejad A, et al. Among authors: kariminejad mh. Am J Med Genet A. 2008 Aug 1;146A(15):1977-9. doi: 10.1002/ajmg.a.32052. Am J Med Genet A. 2008. PMID: 18627040
Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
Kariminejad A, Stollfuß B, Li Y, Bögershausen N, Boss K, Hennekam RC, Wollnik B. Kariminejad A, et al. Am J Med Genet A. 2013 Jun;161A(6):1475-9. doi: 10.1002/ajmg.a.35920. Epub 2013 May 1. Am J Med Genet A. 2013. PMID: 23636941
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.
Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AAB, Hennekam RC. Kariminejad A, et al. Among authors: kariminejad mh. J Invest Dermatol. 2014 Sep;134(9):2331-2338. doi: 10.1038/jid.2014.191. Epub 2014 Apr 16. J Invest Dermatol. 2014. PMID: 24739904 Free article.
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M. Acuna-Hidalgo R, et al. Among authors: kariminejad mh, kariminejad a. Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152457 Free PMC article.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Among authors: kariminejad a. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.
154 results