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American Journal of Medical Genetics. Part A|September 13, 2011
Pregnancy outcome in carriers of Robertsonian translocationsKathelijn Keymolen, Kim Van Berkel, Anniek Vorsselmans, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndromeAdriano Bonaldi, Juliana F Mazzeu, Silvia S Costa, et al.American Journal of Medical Genetics. Part A|September 13, 2011
High-level 46XX/46XY chimerism without clinical effect in a healthy multiparous femalePaul A James, Katherine Rose, David Francis, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing geneKaren W Gripp, Elizabeth Hopkins, Jennifer J Johnston, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibsSheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disabilityMaria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndromeHelen R Fairchild, Graeme Fairchild, Kevin M Tierney, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Madelung deformity in a girl with a novel and de novo mutation in the GNAS genePatrick Rump, Jan D H Jongbloed, Birgit Sikkema-Raddatz, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and reviewMajid Alfadhel, Yolanda P Lillquist, Cynthia Davis, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Somatic mosaicism contributes to phenotypic variation in Timothy syndromeSusan P Etheridge, Neil E Bowles, Cammon B Arrington, et al.Pageof 928