Bilaketaren emaitzak - Stevenson, Roger E. 

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

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

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

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

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

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Seizures and X-linked intellectual disability nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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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