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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S. Van Maldergem L, et al. Among authors: seemanova e. J Med Genet. 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722. J Med Genet. 2002. PMID: 12362029 Free PMC article.
The Neu-Laxova syndrome.
Seemanová E, Rudolf R. Seemanová E, et al. Am J Med Genet. 1985 Jan;20(1):13-5. doi: 10.1002/ajmg.1320200103. Am J Med Genet. 1985. PMID: 3970065 No abstract available.
Further delineation of the Nijmegen breakage syndrome.
Taalman RD, Hustinx TW, Weemaes CM, Seemanová E, Schmidt A, Passarge E, Scheres JM. Taalman RD, et al. Among authors: seemanova e. Am J Med Genet. 1989 Mar;32(3):425-31. doi: 10.1002/ajmg.1320320332. Am J Med Genet. 1989. PMID: 2786340
Methylation and mutation patterns in the fragile X syndrome.
Malmgren H, Steén-Bondeson ML, Gustavson KH, Seémanova E, Holmgren G, Oberlé I, Mandel JL, Pettersson U, Dahl N. Malmgren H, et al. Among authors: seemanova e. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):268-78. doi: 10.1002/ajmg.1320430142. Am J Med Genet. 1992. PMID: 1605200
Fragile X syndrome in incestuous families.
Seemanová E. Seemanová E. Am J Med Genet. 1996 Nov 11;65(4):355-6. doi: 10.1002/(SICI)1096-8628(19961111)65:4<355::AID-AJMG22>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8923949 No abstract available.
164 results