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Page 1
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.
Kariminejad A, Ghaderi-Sohi S, Hossein-Nejad Nedai H, Varasteh V, Moslemi AR, Tajsharghi H. Kariminejad A, et al. Among authors: ghaderi sohi s. BMC Musculoskelet Disord. 2016 Mar 1;17:109. doi: 10.1186/s12891-016-0947-5. BMC Musculoskelet Disord. 2016. PMID: 26932181 Free PMC article.
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
Kariminejad A, Vahidnezhad H, Ghaderi-Sohi S, Ghannadan AR, Youssefian L, Parsimehr E, Faraji Zonooz M, Kariminejad MH, Uitto J, Najmabadi H, Hennekam RC. Kariminejad A, et al. Among authors: ghaderi sohi s. Am J Med Genet A. 2019 Aug;179(8):1547-1555. doi: 10.1002/ajmg.a.61260. Epub 2019 Jun 11. Am J Med Genet A. 2019. PMID: 31184804 Review.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B. Kariminejad A, et al. Among authors: ghaderi sohi s. Am J Hum Genet. 2019 Dec 5;105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21. Am J Hum Genet. 2019. PMID: 31761294 Free PMC article.
5p13 microduplication in a malformed fetus and his unaffected father.
Kariminejad A, Ghaderi-Sohi S, Gholami S, Najafi K, Kariminejad R, Hennekam RCM. Kariminejad A, et al. Among authors: ghaderi sohi s. Am J Med Genet A. 2023 Feb;191(2):370-377. doi: 10.1002/ajmg.a.63030. Epub 2022 Nov 2. Am J Med Genet A. 2023. PMID: 36322476
21 results