Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability von Moreno-De-Luca, Andres, Helmers, Sandra L, Mao, Hui, Burns, Thomas G, Melton, Amanda M A, Schmidt, Karen R, Fernhoff, Paul M, Ledbetter, David H, Martin, Christa L

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US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN) von Pass, Kenneth A., Lane, Peter A., Fernhoff, Paul M., Hinton, Cynthia F., Panny, Susan R., Parks, John S., Pelias, Mary Z., Rhead, William J., Ross, Sonya I., Wethers, Doris L., Elsas, Louis J.

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Retinoic Acid Embryopathy von Lammer, Edward J, Chen, Diane T, Hoar, Richard M, Agnish, Narsingh D, Benke, Paul J, Braun, John T, Curry, Cynthia J, Fernhoff, Paul M, Grix, Art W, Lott, Ira T, Richard, James M, Sun, Shyan C

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Impact of prenatal diagnosis on the birth prevalence on neural tube defects, Atlanta, 1990-1991 von ROBERTS, H. E, MOORE, C. A, CRAGAN, J. D, FERNHOFF, P. M, KHOURY, M. J

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes von Elsas, L J, Langley, S, Steele, E, Evinger, J, Fridovich-Keil, J L, Brown, A, Singh, R, Fernhoff, P, Hjelm, L N, Dembure, P P

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Vitamin B12 deficiency in children and adolescents von Rasmussen, Sonja A., Fernhoff, Paul M., Scanlon, Kelley S.

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A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population von Botto, Lorenzo D, May, Kristin, Fernhoff, Paul M, Correa, Adolfo, Coleman, Karlene, Rasmussen, Sonja A, Merritt, Robert K, O'Leary, Leslie A, Wong, Lee-Yang, Elixson, E. Marsha, Mahle, William T, Campbell, Robert M

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The 22q11.2 deletion syndrome: More answers but more questions von Fernhoff, Paul M.

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Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review von Wang, S S, Fernhoff, P M, Hannon, W H, Khoury, M J

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Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective... von Burton, Barbara K., Whiteman, David A.H.

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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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Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency von Scaglia, F, Wang, Y, Singh, R H, Dembure, P P, Pasquali, M, Fernhoff, P M, Longo, N

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Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome von LARRALDE, M, GARDNER, S. S, DEL V. TORRADO, M, FERNHOFF, P. M, SANTOS MUNOZ, A. E, SPRAKER, M. K, SYBERT, V. P

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Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? A pooled analysis von Wang, S S, Fernhoff, P M, Khoury, M J

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Pyruvate carboxylase deficiency : a benign variant with normal development von VAN COSTER, R. N, FERNHOFF, P. M, DE VIVO, D. C

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Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II — data from the Hunter Outcome Survey von Burton, Barbara K., Guffon, Nathalie, Roberts, Jane, van der Ploeg, Ans T., Jones, Simon A.

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Barriers to Dietary Control Among Pregnant Women With Phenylketonuria—United States, 1998-2000 von Fernhoff, P M, Singh, R, Waisbren, S, Rohr, F

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482 Safety and Efficacy of Velaglucerase Alfa in Gaucher Disease Type 1 Patients Previously Treated with Imiglucerase von Grabowski, G, Pastores, G, Mardach, R, Eng, C, Smith, L, Fernhoff, P, Charrow, J, Heisel-Kurth, M, Longo, N, Rhead, W, Harmatz, P, Mehta, A, Giraldo, P, Tylki-Szymanska, A, Zimran, A, Crombez, E

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Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: Relevance for prenatal diagnosis von Priest, Jean H., Rust, Jean M., Fernhoff, Paul M.

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Creating genetics-based infusion centers: a case study of two models von Laney, Dawn J., White, Amy L., Rhead, William J., Fernhoff, Paul

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