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American Journal of Medical Genetics. Part A|May 19, 2009
Significant phenotypic variability of Muenke syndrome in identical twinsLuis F Escobar, Adam K Hiett, Anne MarnochaAmerican Journal of Medical Genetics. Part A|May 19, 2009
When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X familiesRamsey M Wehbe, Gail A Spiridigliozzi, Elizabeth M Heise, et al.American Journal of Medical Genetics. Part A|May 19, 2009
Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardationC Bonnet, B Leheup, M Béri, et al.American Journal of Medical Genetics. Part A|May 19, 2009
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIBCarmela Di Domenico, Guglielmo R D Villani, Daniele Di Napoli, et al.American Journal of Medical Genetics. Part A|May 19, 2009
Thanatophoric dysplasia caused by double missense FGFR3 mutationsStéphanie Pannier, Jelena Martinovic, Solange Heuertz, et al.American Journal of Medical Genetics. Part A|April 1, 2009
Etiology of nonimmune hydrops fetalis: a systematic reviewCarlo Bellini, Raoul C M Hennekam, Ezio Fulcheri, et al.American Journal of Medical Genetics. Part A|August 9, 2008
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populationsJae Woong Sull, Kung-Yee Liang, Jacqueline B Hetmanski, et al.American Journal of Medical Genetics. Part A|August 9, 2008
Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counselingMiriam Regev, Richard Kirk, Maya Mashevich, et al.American Journal of Medical Genetics. Part A|August 9, 2008
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratodermaSandra Iossa, Viviana Chinetti, Gennaro Auletta, et al.American Journal of Medical Genetics. Part A|October 7, 2008
Molecular characterization of a patient with 3p deletion syndrome and a review of the literatureThomas V Fernandez, I J García-González, Christopher E Mason, et al.Pageof 929