检索结果 - Wei, Xing-Chang

Succesful treatment of diffuse sclerosing osteomyelitis of the mandible/mandibular chronic non-bacterial osteitis with intravenous pamidronate: resolution of pain and radiographic... 由 Miettunen, Paivi, Rice, Alexandra, Wei, Xing Chang, Yu, Weiming

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Cerebral Edema in Maple Syrup Urine Disease Despite Newborn Screening Diagnosis and Early Initiation of Treatment 由 Myers, Kenneth A., Reeves, Melanie, Wei, Xing-Chang, Khan, Aneal

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Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients 由 Nour, Munier A., Luca, Paola, Stephure, David, Wei, Xing-Chang, Khan, Aneal

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AIMP1 Mutation Long-Term Follow-Up, With Decreased Brain N-Acetylaspartic Acid and Secondary Mitochondrial Abnormalities 由 Khan, Aneal, Bennett, Jennifer, Scantlebury, Morris H., Wei, Xing-Chang, Kerr, Marina

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Metallic intraocular foreign body as detected by magnetic resonance imaging without complications– A case report 由 Platt, Alexander S., Wajda, Benjamin G., Ingram, April D., Wei, Xing-Chang, Ells, Anna L.

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Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of... 由 Chang, Caitlin A., Wei, Xing‐Chang, Martin, Steven R., Sinasac, David S., Al‐Hertani, Walla

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Post‐chemotherapy Maturation in Supratentorial Primitive Neuroectodermal Tumors 由 Lafay‐Cousin, Lucie, Hader, Walter, Wei, Xing Chang, Nordal, Robert, Strother, Douglas, Hawkins, Cynthia, Chan, Jennifer A.

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Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum 由 Chard, Marisa, Appendino, Juan Pablo, Bello-Espinosa, Luis E., Curtis, Colleen, Rho, Jong M., Wei, Xing-Chang, Al-Hertani, Walla

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ALG9-CDG: New clinical case and review of the literature 由 Davis, Kellie, Webster, Duncan, Smith, Chris, Jackson, Sheryl, Sinasac, David, Seargeant, Lorne, Wei, Xing-Chang, Ferreira, Patrick, Midgley, Julian, Foster, Yolanda, Li, Xueli, He, Miao, Al-Hertani, Walla

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Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders 由 Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.

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Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders 由 Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.

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