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Prenatal Diagnosis|October 1, 1983
Fragile X demonstrated retrospectively in amniotic cells cultured in low folate mediumL B Nielsen, K B Nielsen, N TommerupHuman Genetics|January 1, 1981
X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriersK B Nielsen, N Tommerup, H Poulsen, et al.The Journal of Clinical Investigation|February 1, 1989
A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagenC D Constantinou, K B Nielsen, D J ProckopJournal of Medical Genetics|December 1, 1979
Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangementK B Nielsen, F Egede, I Mouridsen, et al.Human Genetics|January 1, 1982
Macroorchidism and fragile X in mentally retarded males. Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28, fra(X)(q28)K B Nielsen, N Tommerup, H V Dyggve, et al.Acta Psychiatrica Scandinavica|November 1, 1984
Fragile X-chromosome among child psychiatric patients with disturbances of language and social relationships. A pilot studyO S Jørgensen, K B Nielsen, T Isager, et al.The British Journal of Surgery|August 1, 1993
Prognostic signs in the evaluation of patients with minor head injuryB R Duus, T Boesen, K V Kruse, et al.Ugeskrift for Laeger|July 22, 1991
[Minor head injuries in a Copenhagen district. 1. Epidemiology]B R Duus, K V Kruse, K B Nielsen, et al.Journal of Medical Genetics|October 1, 1986
Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six personsK B Nielsen, N Tommerup, B Jespersen, et al.Ugeskrift for Laeger|September 19, 1994
[Minor head injuries. Prognostic factors in the evaluation of patients]B R Duus, T Boesen, K V Kruse, et al.Pageof 4