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Cerebellar atrophy in a patient with velocardiofacial syndrome.
Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. Lynch DR, et al. Among authors: fischbeck kh. J Med Genet. 1995 Jul;32(7):561-3. doi: 10.1136/jmg.32.7.561. J Med Genet. 1995. PMID: 7562973 Free PMC article.
Paternal transmission of congenital myotonic dystrophy.
Bergoffen J, Kant J, Sladky J, McDonald-McGinn D, Zackai EH, Fischbeck KH. Bergoffen J, et al. Among authors: fischbeck kh. J Med Genet. 1994 Jul;31(7):518-20. doi: 10.1136/jmg.31.7.518. J Med Genet. 1994. PMID: 7966187 Free PMC article.
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S. Guo L, et al. Among authors: fischbeck kh. Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982609 Free PMC article.
Linkage localization of X-linked Charcot-Marie-Tooth disease.
Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH. Bergoffen J, et al. Among authors: fischbeck kh. Am J Hum Genet. 1993 Feb;52(2):312-8. Am J Hum Genet. 1993. PMID: 8430694 Free PMC article.
259 results