Sökresultat - Stevenson, Roger E. 

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

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

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

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

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

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Seizures and X-linked intellectual disability av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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 av 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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