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American Journal of Medical Genetics. Part A|June 10, 2003
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex IIRudy Van Coster, S Seneca, J Smet, et al.American Journal of Medical Genetics. Part A|June 10, 2003
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vaginaLorna S Timmreck, Mark R Gray, Barbara Handelin, et al.American Journal of Medical Genetics. Part A|June 10, 2003
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasiaSalvatore Grosso, Maria Angela Farnetani, Rosario Berardi, et al.American Journal of Medical Genetics. Part A|June 10, 2003
Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and reviewMarja W Wessels, Nicolette J Den Hollander, Ronald R De Krijger, et al.American Journal of Medical Genetics. Part A|June 10, 2003
Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndromeYuki Kondoh, Takaya Toma, Hirofumi Ohashi, et al.American Journal of Medical Genetics. Part A|August 6, 2003
Preimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation productsL J McKenzie, P L Cisneros, S Torsky, et al.American Journal of Medical Genetics. Part A|July 2, 2003
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patientsPatrick Edery, Stéphane Chabrier, Irène Ceballos-Picot, et al.American Journal of Medical Genetics. Part A|July 2, 2003
Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophySonhae Cho, Chun-Hyung Kim, Joseph F Cubells, et al.American Journal of Medical Genetics. Part A|July 2, 2003
Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocationAdriana Piram, Daniela Ortolan, Luis Cesar Peres, et al.American Journal of Medical Genetics. Part A|July 2, 2003
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)Hans Knoblauch, Cornelia Tennstedt, Wolfgang Brueck, et al.Pageof 928