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Human Genetics|May 8, 2000
Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patientsK Wimmer, M Eckart, H Rehder, et al.Human Genetics|May 8, 2000
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairsN J Prescott, M M Lees, R M Winter, et al.Human Genetics|May 8, 2000
Segregation analysis of serum uric acid in the NHLBI Family Heart StudyJ B Wilk, L Djousse, I Borecki, et al.Human Genetics|August 15, 2000
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decayZ Urbán, V V Michels, S N Thibodeau, et al.Human Genetics|August 15, 2000
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IVA De Vos, K Sermon, H Van de Velde, et al.Human Genetics|May 31, 2001
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosisS W Knight, T J Vulliamy, B Morgan, et al.Human Genetics|May 31, 2001
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosaC Bareil, C P Hamel, V Delague, et al.Human Genetics|May 31, 2001
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)A N Yatsenko, N F Shroyer, R A Lewis, et al.Human Genetics|July 29, 2000
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiencyF Ishibashi, H Nunoi, F Endo, et al.Human Genetics|July 29, 2000
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody diseaseA Odermatt, K Barton, V K Khanna, et al.Pageof 959