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Roger E Stevenson

Showing results (71-80 of 158) with videos related to

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Frontiers in Molecular Neuroscience|February 3, 2016
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-OrchidismPhilip Long, Melanie M May, Victoria M James, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesityMarwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
International Journal of Molecular Sciences|January 27, 2021
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield TypeSadegheh Haghshenas, Michael A Levy, Jennifer Kerkhof, et al.
American Journal of Medical Genetics. Part A|February 28, 2003
Shashi XLMR syndrome: report of a second familyNelson H C Castro, Rita C Stocco dos Santos, Retecher Nelson, et al.
Human Molecular Genetics|July 21, 2012
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activityKyoko Takano, Dan Liu, Patrick Tarpey, et al.
Data in Brief|December 8, 2021
A new test for autism spectrum disorder: Metabolic data from different cell typesSujata Srikanth, Lauren Cascio, Rini Pauly, et al.
BMC Medical Genetics|April 27, 2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneMonica L Stepp, A Lauren Cason, Merran Finnis, et al.
Human Molecular Genetics|March 5, 2005
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptorJuliane Ramser, Fatima E Abidi, Celine A Burckle, et al.
American Journal of Medical Genetics. Part A|April 4, 2003
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3Rita C Stocco dos Santos, Nelson H C Castro, A Lillia Holmes, et al.
Journal of Medical Genetics|January 12, 2020
De novo variants in <i>SUPT16H</i> cause neurodevelopmental disorders associated with corpus callosum abnormalitiesRoya Bina, Dena Matalon, Brieana Fregeau, et al.
Pageof 16

Showing results (71-80 of 158) with videos related to

Sort By:
Pageof 16
Frontiers in Molecular Neuroscience|February 3, 2016
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-OrchidismPhilip Long, Melanie M May, Victoria M James, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesityMarwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
International Journal of Molecular Sciences|January 27, 2021
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield TypeSadegheh Haghshenas, Michael A Levy, Jennifer Kerkhof, et al.
American Journal of Medical Genetics. Part A|February 28, 2003
Shashi XLMR syndrome: report of a second familyNelson H C Castro, Rita C Stocco dos Santos, Retecher Nelson, et al.
Human Molecular Genetics|July 21, 2012
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activityKyoko Takano, Dan Liu, Patrick Tarpey, et al.
Data in Brief|December 8, 2021
A new test for autism spectrum disorder: Metabolic data from different cell typesSujata Srikanth, Lauren Cascio, Rini Pauly, et al.
BMC Medical Genetics|April 27, 2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneMonica L Stepp, A Lauren Cason, Merran Finnis, et al.
Human Molecular Genetics|March 5, 2005
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptorJuliane Ramser, Fatima E Abidi, Celine A Burckle, et al.
American Journal of Medical Genetics. Part A|April 4, 2003
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3Rita C Stocco dos Santos, Nelson H C Castro, A Lillia Holmes, et al.
Journal of Medical Genetics|January 12, 2020
De novo variants in <i>SUPT16H</i> cause neurodevelopmental disorders associated with corpus callosum abnormalitiesRoya Bina, Dena Matalon, Brieana Fregeau, et al.
Pageof 16