Genotype differences in cognitive functioning in Noonan syndrome von Pierpont, E. I., Pierpont, M. E., Mendelsohn, N. J., Roberts, A. E., Tworog‐Dube, E., Seidenberg, M. S.

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Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions von Schaefer, G. Bradley, Mendelsohn, Nancy J.

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Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey von Mendelsohn, Nancy J., Harmatz, Paul, Bodamer, Olaf, Burton, Barbara K., Giugliani, Roberto, Jones, Simon A., Lampe, Christina, Malm, Gunilla, Steiner, Robert D., Parini, Rossella

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Expert recommendations for the laboratory diagnosis of MPS VI von Wood, T., Bodamer, O.A., Burin, M.G., D'Almeida, V., Fietz, M., Giugliani, R., Hawley, S.M., Hendriksz, C.J., Hwu, W.L., Ketteridge, D., Lukacs, Z., Mendelsohn, N.J., Miller, N., Pasquali, M., Schenone, A., Schoonderwoerd, K., Winchester, B., Harmatz, P.

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The Long and Short of Genetic Counseling Summary Letters: A Case–control Study von Roggenbuck, J., Temme, R., Pond, D., Baker, J., Jarvis, K., Liu, M., Dugan, S., Mendelsohn, N. J.

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Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients von Giugliani, R., Harmatz, P., Jones, S.A., Mendelsohn, N.J., Vellodi, A., Qiu, Y., Hendriksz, C.J., Vijayaraghavan, S., Whiteman, D.A.H., Pano, A.

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A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon von Macaya, D., Katsanis, S.H., Hefferon, T.W., Audlin, S., Mendelsohn, N.J., Roggenbuck, J., Cutting, G.R.

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Erratum to: The Long and Short of Genetic Counseling Letters: A Case–control Study von Roggenbuck, J., Temme, R., Pond, D., Baker, J., Jarvis, K., Liu, M., Dugan, S., Mendelsohn, N. J.

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Genetics evaluation for the etiologic diagnosis of autism spectrum disorders von Schaefer, G. Bradley, Mendelsohn, Nancy J.

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Clinical genetics evaluation in identifying the etiology of autism spectrum disorders von Schaefer, G. Bradley, Mendelsohn, Nancy J.

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The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) von Jones, Simon A., Parini, Rossella, Harmatz, Paul, Giugliani, Roberto, Fang, Juanzhi, Mendelsohn, Nancy J.

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Detection and assessment by positron emission tomography of a genetically determined defect in myocardial fatty acid utilization (long-chain acyl-coa dehydrogenase deficiency) von Kelly, Daniel P., Mendelsohn, Nancy J., Sobel, Burton E., Bergmann, Steven R.

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Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature von Roggenbuck, Jennifer A., Mendelsohn, Nancy J., Tenenholz, Beverly, Ladda, Roger L., Fink, James M.

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Microcephalic osteodysplastic primordial dwarfism, type II : report of a case with characteristic skeletal features von HERMAN, T. E, MENDELSOHN, N. J, DOWTON, S. B, MCALISTER, W. H

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Expression and characterization of human mutant (glutamic acid304) medium-chain acyl-coenzyme A dehydrogenase in mammalian cells von WHELAN, A. J, STRAUSS, A. W, HALE, D. E, MENDELSOHN, N. J, KELLY, D. P

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A novel microdeletion/microduplieation syndrome of 19p13.13 von Dolan, M, Mendelsohn, N J, Pierpont, ME, Schimmenti, LA, Berry, SA, Hirsch, B

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Synonymous Mutation in TCOF1 Causes Treacher ollins Syndrome Due to Mis-Splicing of a onstitutive Exon von MACAYA, D, KATSANIS, S. H, HEFFERON, T. W, AUDLIN, S, MENDELSOHN, N. J, ROGGENBUCK, J, CUTTING, G. R

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Monosomy 9p24→pter and trisomy 5q31→qter: Case report and review of two cases von Schimmenti, Lisa A., Higgins, Rodney R., Mendelsohn, Nancy J., Casey, Timothy M., Steinberger, Julia, Mammel, Mark C., Wiesner, Georgia L.

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Regulation of the human long chain acyl-CoA dehydrogenase gene by nuclear hormone receptor transcription factors von Zhang, Zhifang, Zhou, Yeqing, Mendelsohn, Nancy J, Bauer, Gregory S, Strauss, Arnold W

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Unique case of trisomy 2p24.3-pter with no associated monosomy von Roggenbuck, Jennifer A., Fink, James M., Mendelsohn, Nancy J.

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