response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, ope... von Burton, B. K, Grange, D. K, Milanowski, A, Vockley, G, Feillet, F, Crombez, E. A, Abadie, V, Harding, C. O, Cederbaum, S, Dobbelaere, D, Smith, A, Dorenbaum, A

Volltext

Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis von Burton, Barbara K

Volltext

Home visits in the Danish High Risk and Resilience Study – VIA 7: assessment of the home environment of 508 7‐year‐old children born to parents diagnosed with schizophrenia or bipo... von Gantriis, D. L., Thorup, A. A. E., Harder, S., Greve, A. N., Henriksen, M. T., Zahle, K. K., Stadsgaard, H., Ellersgaard, D., Burton, B. K., Christiani, C. J., Spang, K., Hemager, N., Uddin, Md. J., Jepsen, J. R. M., Plessen, K. J., Nordentoft, M., Mors, O., Bliksted, V.

Volltext

Inhibition of protein kinase C (PKC) response of voltage-gated calcium (Cav )2.2 channels expressed in Xenopus oocytes by Cav β subunits von Rajagopal, S, Fields, B.L, Burton, B.K, On, C, Reeder, A.A, Kamatchi, G.L

Volltext

Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene von BASSUK, A. G, JOSHI, A, BURTON, B. K, LARSEN, M. B, BURROWES, D. M, STACK, C

Volltext

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

Volltext

Effect of long-term β-blockade on aortic root compliance in patients with Marfan syndrome von Rios, Alvaro S., Silber, Earl N., Bavishi, Neil, Varga, Peter, Burton, Barbara K., Clark, William A., Denes, Pablo

Volltext

Aging and neural spatial contrast sensitivity: Photopic vision von Burton, Kerri B., Owsley, Cynthia, Sloane, Michael E.

Volltext

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 von Robin, Nathaniel H, Feldman, George J, Aronson, Adam L, Mitchell, Heather F, Weksberg, Rosanna, Leonard, Claire O, Burton, Barbara K, Josephson, Kevin D, Laxová, Renata, Aleck, Kyrieckos A, Allanson, Judith E, Guion-Almeida, Maria Leine, Martin, Rick A, Leichtman, Lawrence G, Price, R. Arlen, Opitz, John M, Muenke, Maximilian

Volltext

Limb Anomalies Associated With Chorionic Villus Sampling von BURTON, BARBARA K, SCHULZ, CHARLENE J, BURD, LAURENCE I

Volltext

Outcome of Pregnancy in Patients With Unexplained Elevated Or Low Levels of Maternal Serum Alpha-Fetoprotein von BURTON, BARBARA K

Volltext

Familial leg ulcers von Angle, Brad, Burton, Barbara K

Volltext

Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency von BATSHAW, M. L, ROBINSON, M. B, XUEHAI YE, PABIN, C, DAIKHIN, Y, BURTON, B. K, WILSON, J. M, YUDKOFF, M

Volltext

Spectrum of limb disruption defects associated with chorionic villus sampling von BURTON, B. K, SCHULZ, C. J, BURD, L. I

Volltext

An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS) von Burton, Barbara K., Schulz, Charlene J., Angle, Brad, Burd, Laurence I.

Volltext

Inborn errors of metabolism: the clinical diagnosis in early infancy von BURTON, B. K

Volltext

Oromandibular-limb hypogenesis syndrome following chorionic villus sampling von Gruber, Benjamin, Burton, Barbara K.

Volltext

Outcome in infants born to mothers with unexplained elevations of maternal serum α-fetoprotein von BURTON, B. K, DILLARD, R. G

Volltext

Congenital nephrosis as a cause of elevated alpha-fetoprotein von Albright, S. G., Warner, A. A., Seeds, J. W., Burton, B. K.

Volltext

An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism von Edelmann, Lisa, Prosnitz, Aaron, Pardo, Sherly, Bhatt, Jahnavi, Cohen, Ninette, Lauriat, Tara, Ouchanov, Leonid, González, Patricia J, Manghi, Elina R, Bondy, Pamela, Esquivel, Marcela, Monge, Silvia, Delgado, Marietha F, Splendore, Alessandra, Francke, Uta, Burton, Barbara K, McInnes, L Alison

Volltext