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American Journal of Medical Genetics. Part A|April 1, 2004
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicismLaurence Faivre, Martine Le Merrer, Serges Douvier, et al.American Journal of Medical Genetics. Part A|April 21, 2004
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updatePeter G Barth, Fredoen Valianpour, Valerie M Bowen, et al.American Journal of Medical Genetics. Part A|April 21, 2004
Contribution of malformations and genetic disorders to mortality in a children's hospitalDavid A Stevenson, John C CareyAmerican Journal of Medical Genetics. Part A|April 21, 2004
Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)Krishna K Yelavarthi, Janice ZunichAmerican Journal of Medical Genetics. Part A|April 2, 2004
Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?Joseph R Biggio, Maria D Descartes, Andrew J Carroll, et al.American Journal of Medical Genetics. Part A|March 3, 2004
Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese familyA Shamseddine, A Taher, S Fakhani, et al.American Journal of Medical Genetics. Part A|March 3, 2004
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotypeMark A Tarnopolsky, J M Bourgeois, M-H Fu, et al.American Journal of Medical Genetics. Part A|February 26, 2004
Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and OhioLina M Moreno, Mauricio Arcos-Burgos, Mary L Marazita, et al.American Journal of Medical Genetics. Part A|February 26, 2004
Translocation (Y;22) resulting in the loss of SHOX and isolated short statureC Borie, J Léger, O Dupuy, et al.American Journal of Medical Genetics. Part A|March 25, 2004
Goethe's bone and the beginnings of morphologyJohn M OpitzPageof 929