Ohcanbohtosat - Stevenson, Roger E. 

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

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

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

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

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

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Seizures and X-linked intellectual disability Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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 Dahkki 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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