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American Journal of Medical Genetics. Part A|March 11, 2006
Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatmentTomoki Kosho, Tomohiko Nakamura, Hiroshi Kawame, et al.American Journal of Medical Genetics. Part A|September 7, 2006
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation patternCatherine Badens, Nathalie Martini, Sébastien Courrier, et al.American Journal of Medical Genetics. Part A|September 7, 2006
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic featuresAnne-Marie Bisgaard, Maria Kirchhoff, Zeynep Tümer, et al.American Journal of Medical Genetics. Part A|September 12, 2006
4q35 deletion and 10p15 duplication associated with immunodeficiencyS Cingoz, A M Bisgaard, I Bache, et al.American Journal of Medical Genetics. Part A|October 6, 2006
Diagnostic yield of chromosome analysis in patients with developmental delay or mental retardation who are otherwise nondysmorphicJoanne F Macayran, Stephen D Cederbaum, Michelle A FoxAmerican Journal of Medical Genetics. Part A|May 11, 2005
Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmentiIan M Hayes, George Varigos, Edward J Upjohn, et al.American Journal of Medical Genetics. Part A|May 11, 2005
A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadismAntonio Balsamo, Alessandra Antelli, Lilia Baldazzi, et al.American Journal of Medical Genetics. Part A|May 11, 2005
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysisPeter N Robinson, Luitgard M Neumann, Stephanie Demuth, et al.American Journal of Medical Genetics. Part A|May 11, 2005
Association of migraine-like headaches with Schimke immuno-osseous dysplasiaSara Sebnem Kilic, Osman Donmez, Emily A Sloan, et al.American Journal of Medical Genetics. Part A|September 10, 2005
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical featuresMasayo Kagami, Gen Nishimura, Torayuki Okuyama, et al.Pageof 928