Torthaí cuardaigh - Stevenson, Roger E. 

The MCT8 thyroid hormone transporter and Allan--Herndon--Dudley syndrome de réir Schwartz, Charles E., Stevenson, Roger E.

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Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery de réir Lubs, Herbert A., Stevenson, Roger E., Schwartz, Charles E.

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Malformations Among the X-Linked Intellectual Disability Syndromes de réir Stevenson, Roger E., Schwartz, Charles E., Rogers, R. Curtis

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The impact of spermine synthase (SMS) mutations on brain morphology de réir Kesler, Shelli R., Schwartz, Charles, Stevenson, Roger E., Reiss, Allan L.

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XLID Update 2017 de réir Neri, Giovanni, Schwartz, Charles E., Lubs, Hebert A., Stevenson, Roger E.

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Seizures and X-linked intellectual disability de réir Stevenson, Roger E., Holden, Kenton R., Rogers, R. Curtis, Schwartz, Charles E.

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Long Term Maintenance of Neural Tube Defects Prevention in a High Prevalence State de réir Collins, Julianne S., Atkinson, Kristy K., Dean, Jane H., Best, Robert G., Stevenson, Roger E.

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AGTR2 in Brain Development and Function de réir Vervoort, Virginie S., Guzauskas, Greagory, Archie, John, Schwartz, Charles E., Stevenson, Roger E., Srivastava, Anand K.

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UBE2A-Related X-linked Intellectual Disability de réir Stevenson, Roger E., Chudley, Albert E., Srivastava, Anand K., Rodriguez, Jayson, Friez, Michael J., Schwartz, Charles E.

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X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation de réir Zhang, Lilei, Jie, Chunfa, Obie, Cassandra, Abidi, Fatima, Schwartz, Charles E., Stevenson, Roger E., Valle, David, Wang, Tao

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Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin–Lowry syndrome de réir Kesler, Shelli R., Simensen, Richard J., Voeller, Kytja, Abidi, Fatima, Stevenson, Roger E., Schwartz, Charles E., Reiss, Allan L.

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Duplication of OCRL and Adjacent Genes Associated with Autism but not Lowe Syndrome de réir Schroer, Richard J., Beaudet, Arthur L., Shinawi, Marwan, Sahoo, Trilochan, Patel, Ankita, Sun, Qin, Skinner, Cindy, Stevenson, Roger E.

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Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect, craniorachischisis de réir Robinson, Alexis, Escuin, Sarah, Doudney, Kit, Vekemans, Michel, Stevenson, Roger E, Greene, Nicholas DE, Copp, Andrew J, Stanier, Philip

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Phenotype and Genotype in Mucolipidoses II and III alpha/beta: A Study of 61 Probands de réir Cathey, Sara S., Leroy, Jules G., Wood, Tim, Eaves, Karisa, Simensen, Richard J., Kudo, Mariko, Stevenson, Roger E., Friez, Michael J.

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Craniofacioskeletal Syndrome: An X-Linked Dominant Disorder With Early Lethality in Males de réir Stevenson, Roger E., Brasington, Cam K., Skinner, Cindy, Simensen, Richard J., Spence, J. Edward, Kesler, Shelli, Reiss, Allan L., Schwartz, Charles E.

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A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain de réir Leroy, Jules G, Sillence, David, Wood, Tim, Barnes, Jarrod, Lebel, Robert Roger, Friez, Michael J, Stevenson, Roger E, Steet, Richard, Cathey, Sara S

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Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder de réir Cascio, Lauren, Chen, Chin‐Fu, Pauly, Rini, Srikanth, Sujata, Jones, Kelly, Skinner, Cindy D., Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi

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Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly de réir Lenski, Claus, Abidi, Fatima, Meindl, Alfons, Gibson, Alice, Platzer, Matthias, Frank Kooy, R., Lubs, Herbert A., Stevenson, Roger E., Ramser, Juliane, Schwartz, Charles E.

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Decreased tryptophan metabolism in patients with autism spectrum disorders de réir Boccuto, Luigi, Chen, Chin-Fu, Pittman, Ayla R, Skinner, Cindy D, McCartney, Heather J, Jones, Kelly, Bochner, Barry R, Stevenson, Roger E, Schwartz, Charles E

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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity de réir Takano, Kyoko, Liu, Dan, Tarpey, Patrick, Gallant, Esther, Lam, Alex, Witham, Shawn, Alexov, Emil, Chaubey, Alka, Stevenson, Roger E., Schwartz, Charles E., Board, Philip G., Dulhunty, Angela F.

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