Bilaketaren emaitzak - McDonald, Marie

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood nork Patel, Bimal, Pendyal, Surekha, Kishnani, Priya S., McDonald, Marie, Bailey, Lauren

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Identification of EPCAM mutation: clinical use of microarray nork Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.

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Physical activity and sedentary behaviour and their associations with clinical measures in axial spondyloarthritis nork Coulter, Elaine H., McDonald, Marie Therese, Cameron, Sara, Siebert, Stefan, Paul, Lorna

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A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness nork Coppola, Tiziana, Becken, Bradford, Van Mater, Heather, McDonald, Marie Theresa, Panayotti, Gabriela Maradiaga

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An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome nork Williams, Jason L., McDonald, Marie T., Seifert, Bryce A., Deak, Kristen L., Rehder, Catherine W., Campbell, Michael J.

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An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy nork Goker-Alpan, Ozlem, Longo, Nicola, McDonald, Marie, Shankar, Suma P, Schiffmann, Raphael, Chang, Peter, Shen, Yinghua, Pano, Arian

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Clinical application of exome sequencing in undiagnosed genetic conditions nork Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B

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Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutar... nork Prasun, Pankaj, Young, Sarah, Salomons, Gajja, Werneke, Andrea, Jiang, Yong-hui, Struys, Eduard, Paige, Mikell, Avantaggiati, Maria Laura, McDonald, Marie

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A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled with Stimulant Therapy nork Zhang, Guohui, Gibson, Rebecca A., McDonald, Marie, Liang, Pengfei, Kang, Po Wei, Shi, Jingyi, Yang, Huanghe, Cui, Jianmin, Mikati, Mohamad A.

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Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited P... nork Gururangan, Sridharan, Frankel, Wendy, Broaddus, Russell, Clendenning, Mark, Senter, Leigha, McDonald, Marie, Eastwood, James, Reardon, David, Vredenburgh, James, Quinn, Jennifer, Friedman, Henry S.

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Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant nork Moss, Tonya, May, Melanie, Flanagan-Steet, Heather, Caylor, Raymond, Jiang, Yong-Hui, McDonald, Marie, Friez, Michael, McConkie-Rosell, Allyn, Steet, Richard

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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies nork Khan, Tahir N., Khan, Kamal, Sadeghpour, Azita, Reynolds, Hannah, Perilla, Yezmin, McDonald, Marie T., Gallentine, William B., Baig, Shahid M., Davis, Erica E., Katsanis, Nicholas

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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses nork Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana

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Early Onset Severe ATP1A2 Epileptic Encephalopathy: Clinical Characteristics and Underlying Mutations nork Moya-Mendez, Mary E., Mueller, David M., Pratt, Milton, Bonner, Melanie, Elliott, Courtney, Hunanyan, Arsen, Kucera, Gary, Bock, Cheryl, Prange, Lyndsey, Jasien, Joan, Keough, Karen, Shashi, Vandana, McDonald, Marie, Mikati, Mohamad A.

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CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age nork Mizumoto, Shuji, Janecke, Andreas R., Sadeghpour, Azita, Povysil, Gundula, McDonald, Marie T., Unger, Sheila, Greber‐Platzer, Susanne, Deak, Kristen L., Katsanis, Nicholas, Superti‐Furga, Andrea, Sugahara, Kazuyuki, Davis, Erica E., Yamada, Shuhei, Vodopiutz, Julia

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Biallelic mutations in FDXR cause neurodegeneration associated with inflammation nork Slone, Jesse, Peng, Yanyan, Chamberlin, Adam, Harris, Belinda, Kaylor, Julie, McDonald, Marie T., Lemmon, Monica, El-Dairi, Mays Antonine, Tchapyjnikov, Dmitry, Gonzalez-Krellwitz, Laura A, Sellars, Elizabeth A., McConkie-Rosell, Allyn, Reinholdt, Laura G., Huang, Taosheng

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Novel Pathogenic Variants in FOXP3 in Fetuses with Echogenic Bowel and Skin Desquamation Identified by Ultrasound nork Louie, Raymond J., Tan, Queenie K.-G., Gilner, Jennifer B., Rogers, R. Curtis, Younge, Noelle, Wechsler, Stephanie B., McDonald, Marie T., Gordon, Barbara, Saski, Christopher A., Jones, Julie R., Chapman, Shelley J., Stevenson, Roger E., Sleasman, John W., Friez, Michael J.

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A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay nork Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.

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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture nork Yu, Timothy W., Mochida, Ganeshwaran H., Tischfield, David J., Sgaier, Sema K., Flores-Sarnat, Laura, Sergi, Consolato M., Topçu, Meral, McDonald, Marie T., Barry, Brenda J., Felie, Jillian, Sunu, Christine, Dobyns, William B., Folkerth, Rebecca D., Barkovich, A. James, Walsh, Christopher A.

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication nork Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G

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