Resultados de procura - Siu, Victoria

Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report por Verma, Subhrata, Chanchlani, Rahul, Siu, Victoria Mok, Filler, Guido

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Amish, Mennonite, and Hutterite Genetic Disorder Database por Payne, Michael, Rupar, C Anthony, Siu, Geoffrey M, Siu, Victoria Mok

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A fourth case of Feingold syndrome type 2: psychiatric presentation and management por Ganjavi, Hooman, Siu, Victoria Mok, Speevak, Marsha, MacDonald, Penny Anne

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Lend Me a Hand: A Value-Based Care Case Study on Pan Plexopathy of Unknown Origin por Siu, Victoria J, Varkey, Thomas, Khan, Umer N, Ding, Jack B, Gandhi, Saurin

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Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors por Schenkel, Laila C., Rodenhiser, David, Siu, Victoria, McCready, Elizabeth, Ainsworth, Peter, Sadikovic, Bekim

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Choroideremia associated with an X-autosomal translocation por Siu, Victoria M., Gonder, John R., Jung, Jack H., Sergovich, Frederick R., Flintoff, Wayne F.

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Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a TSC2 Variant in Renal Tissue por Ikeda, Kristin M., House, Andrew A., Connaughton, Dervla M., Pautler, Stephen E., Siu, Victoria Mok, Jones, Michelle-Lee

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Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions por Uddin, Raihan K, Zhang, Yang, Siu, Victoria Mok, Fan, Yao-Shan, O'Reilly, Richard L, Rao, Jay, Singh, Shiva M

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Transcriptional Profiling of Endocrine Cerebro-Osteodysplasia Using Microarray and Next-Generation Sequencing por Lahiry, Piya, Lee, Leo J., Frey, Brendan J., Rupar, C. Anthony, Siu, Victoria M., Blencowe, Benjamin J., Hegele, Robert A.

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Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey por Rohatgi, Sarika, Clark, Dinah, Kline, Antonie D., Jackson, Laird G., Pie, Juan, Siu, Victoria, Ramos, Feliciano J., Krantz, Ian D., Deardorff, Matthew A.

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A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder por Lahiry, Piya, Racacho, Lemuel, Wang, Jian, Robinson, John F, Gloor, Gregory B, Rupar, C Anthony, Siu, Victoria M, Bulman, Dennis E, Hegele, Robert A

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Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency por Farhan, Sali M K, Wang, Jian, Robinson, John F, Lahiry, Piya, Siu, Victoria M, Prasad, Chitra, Kronick, Jonathan B, Ramsay, David A, Rupar, C Anthony, Hegele, Robert A

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Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type por Haghshenas, Sadegheh, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, McConkey, Haley, Balci, Tugce, Siu, Victoria Mok, Skinner, Cindy D., Stevenson, Roger E., Sadikovic, Bekim, Schwartz, Charles

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A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America por Loucks, Catrina, Parboosingh, Jillian S., Chong, Jessica X., Ober, Carole, Siu, Victoria M., Hegele, Robert A., Rupar, C. Anthony, McLeod, D. Ross, Pinto, Alfredo, Chudley, Albert E., Innes, A. Micheil

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MECP2 Mutation Interrupts Nucleolin–mTOR–P70S6K Signaling in Rett Syndrome Patients por Olson, Carl O., Pejhan, Shervin, Kroft, Daniel, Sheikholeslami, Kimia, Fuss, David, Buist, Marjorie, Ali Sher, Annan, Del Bigio, Marc R., Sztainberg, Yehezkel, Siu, Victoria Mok, Ang, Lee Cyn, Sabourin-Felix, Marianne, Moss, Tom, Rastegar, Mojgan

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A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems por Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., Gloor, Gregory B., Puffenberger, Erik G., Strauss, Kevin A., Martens, Mildred B., Ramsay, David A., Rupar, C. Anthony, Siu, Victoria, Hegele, Robert A.

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A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems por Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., Gloor, Gregory B., Puffenberger, Erik G., Strauss, Kevin A., Martens, Mildred B., Ramsay, David A., Rupar, C. Anthony, Siu, Victoria, Hegele, Robert A.

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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation por Deardorff, Matthew A., Kaur, Maninder, Yaeger, Dinah, Rampuria, Abhinav, Korolev, Sergey, Pie, Juan, Gil-Rodríguez, Concepcion, Arnedo, María, Loeys, Bart, Kline, Antonie D., Wilson, Meredith, Lillquist, Kaj, Siu, Victoria, Ramos, Feliciano J., Musio, Antonio, Jackson, Laird S., Dorsett, Dale, Krantz, Ian D.

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Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders por Szot, Justin O., Campagnolo, Carla, Cao, Ye, Iyer, Kavitha R., Cuny, Hartmut, Drysdale, Thomas, Flores-Daboub, Josue A., Bi, Weimin, Westerfield, Lauren, Liu, Pengfei, Leung, Tse Ngong, Choy, Kwong Wai, Chapman, Gavin, Xiao, Rui, Siu, Victoria M., Dunwoodie, Sally L.

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Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia por Sawyer, Sarah L, Schwartzentruber, Jeremy, Beaulieu, Chandree L, Dyment, David, Smith, Amanda, Chardon, Jodi Warman, Yoon, Grace, Rouleau, Guy A, Suchowersky, Oksana, Siu, Victoria, Murphy, Lisa, Hegele, Robert A, Marshall, Christian R, Bulman, Dennis E, Majewski, Jacek, Tarnopolsky, Mark, Boycott, Kym M

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