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TAR syndrome with orofacial clefting.
Midro A, Hubert E, Preferansow J, Iwaszkiewicz-Pawłowska A. Midro A, et al. Among authors: hubert e. Genet Couns. 1993;4(3):187-92. Genet Couns. 1993. PMID: 8267925
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Midro AT, Stasiewicz-Jarocka B, Borys J, Kozłowski K, Skotnicka B, Tarasów E, Hubert E, Konstantynowicz J, Panasiuk B, Rydzanicz M, Pollak A, Stawiński P, Skowroński R, Płoski R. Midro AT, et al. Among authors: hubert e. Am J Med Genet A. 2018 Nov;176(11):2382-2388. doi: 10.1002/ajmg.a.40431. Epub 2018 Oct 17. Am J Med Genet A. 2018. PMID: 30329210
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
Midro AT, Panasiuk B, Tümer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasów E, Famulski W, Zadrozna-Tołwińska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N. Midro AT, et al. Among authors: hubert e. Am J Med Genet A. 2004 Jan 15;124A(2):179-91. doi: 10.1002/ajmg.a.20367. Am J Med Genet A. 2004. PMID: 14699618 Review.
182 results