Search Results - Stevenson, Roger

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  1. 1
    The MCT8 thyroid hormone transporter and Allan--Herndon--Dudley syndrome

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

    Published 2007
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  2. 2
    Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

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

    Published 2012
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  3. 3
    Malformations Among the X-Linked Intellectual Disability Syndromes

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

    Published 2013
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  4. 4
    The impact of spermine synthase (SMS) mutations on brain morphology

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

    Published 2009
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  5. 5
    XLID Update 2017

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

    Published 2018
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  6. 6
    Seizures and X-linked intellectual disability

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

    Published 2012
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  7. 7
    Long Term Maintenance of Neural Tube Defects Prevention in a High Prevalence State

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

    Published 2011
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  8. 8
    AGTR2 in Brain Development and Function

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

    Published 2006
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  9. 9
    Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders

    Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders by Plenge, Robert M., Stevenson, Roger A., Lubs, Herbert A., Schwartz, Charles E., Willard, Huntington F.

    Published 2002
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  10. 10
    Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

    Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes by Niranjan, Tejasvi S., Skinner, Cindy, May, Melanie, Turner, Tychele, Rose, Rebecca, Stevenson, Roger, Schwartz, Charles E., Wang, Tao

    Published 2015
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  11. 11
    UBE2A-Related X-linked Intellectual Disability

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

    Published 2019
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  12. 12
    X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation

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

    Published 2007
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  13. 13
    Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin–Lowry syndrome

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

    Published 2007
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  14. 14
    Duplication of OCRL and Adjacent Genes Associated with Autism but not Lowe Syndrome

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

    Published 2012
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  15. 15
    Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect, craniorachischisis

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

    Published 2011
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  16. 16
    Phenotype and Genotype in Mucolipidoses II and III alpha/beta: A Study of 61 Probands

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

    Published 2009
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  17. 17
    Craniofacioskeletal Syndrome: An X-Linked Dominant Disorder With Early Lethality in Males

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

    Published 2007
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  18. 18
    A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain

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

    Published 2014
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  19. 19
    Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

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

    Published 2019
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  20. 20
    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

    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 by Lenski, Claus, Abidi, Fatima, Meindl, Alfons, Gibson, Alice, Platzer, Matthias, Frank Kooy, R., Lubs, Herbert A., Stevenson, Roger E., Ramser, Juliane, Schwartz, Charles E.

    Published 2004
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