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American Journal of Medical Genetics. Part A|August 19, 2004
Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocationS S Takeno, M Corbani, J A D Andrade, et al.American Journal of Medical Genetics. Part A|August 19, 2004
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotypeCedric Shackleton, Josep Marcos, Wiebke Arlt, et al.American Journal of Medical Genetics. Part A|August 19, 2004
Mitotic and meiotic instability of a telomere association involving the Y chromosomeBing Huang, Christa Lese Martin, Constance J Sandlin, et al.American Journal of Medical Genetics. Part A|July 21, 2004
Adaptive skills, cognitive, and behavioral characteristics of Costello syndromeMarni E Axelrad, Rochelle Glidden, Linda Nicholson, et al.American Journal of Medical Genetics. Part A|July 21, 2004
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutationM L Kwee, J A van de Sluijs, J M G van Vugt, et al.American Journal of Medical Genetics. Part A|July 21, 2004
New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformationsAndré Mégarbané, Linda Daou, Hala Mégarbané, et al.American Journal of Medical Genetics. Part A|July 21, 2004
Primary trabeculodysgenesis in association with neonatal Marfan syndromeCharlotte M Whitelaw, Samira Anwar, Lesley C Adès, et al.American Journal of Medical Genetics. Part A|July 21, 2004
Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotypeRita Genesio, Genesio Rita, Daniele De Brasi, et al.American Journal of Medical Genetics. Part A|December 4, 2004
MECP2 mutation analysis in patients with mental retardationTero Ylisaukko-Oja, Karola Rehnström, Raija Vanhala, et al.American Journal of Medical Genetics. Part A|December 4, 2004
Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two casesCédric Le Caignec, Philippe De Mas, Marie-Claire Vincent, et al.Pageof 929