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Roger E Stevenson

Showing results (51-60 of 158) with videos related to

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American Journal of Medical Genetics. Part A|September 12, 2012
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndromeRichard J Schroer, Arthur L Beaudet, Marwan Shinawi, et al.
American Journal of Medical Genetics. Part A|December 10, 2019
Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12Raymond J Louie, Michael J Friez, Cindy Skinner, et al.
Human Mutation|November 19, 2011
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisisAlexis Robinson, Sarah Escuin, Kit Doudney, et al.
American Journal of Medical Genetics. Part A|November 15, 2005
Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangementsTrilochan Sahoo, Chad A Shaw, Andrew S Young, et al.
American Journal of Medical Genetics. Part A|March 26, 2014
The intellectual disabilities evaluation and advice system (IDEAS): outcome of the first 55 casesAlasdair G W Hunter, John M Graham, Giovanni Neri, et al.
American Journal of Medical Genetics. Part A|June 14, 2014
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndromeAmanda S Lindy, Caleb P Bupp, Stephen J McGee, et al.
European Journal of Medical Genetics|February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosisJulia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in malesRoger E Stevenson, Cam K Brasington, Cindy Skinner, et al.
Human Genetics|March 26, 2009
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linkedFatima Abidi, Lynda Holloway, Cynthia A Moore, et al.
Human Genetics|March 26, 2009
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linkedFatima Abidi, Lynda Holloway, Cynthia A Moore, et al.
Pageof 16

Showing results (51-60 of 158) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|September 12, 2012
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndromeRichard J Schroer, Arthur L Beaudet, Marwan Shinawi, et al.
American Journal of Medical Genetics. Part A|December 10, 2019
Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12Raymond J Louie, Michael J Friez, Cindy Skinner, et al.
Human Mutation|November 19, 2011
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisisAlexis Robinson, Sarah Escuin, Kit Doudney, et al.
American Journal of Medical Genetics. Part A|November 15, 2005
Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangementsTrilochan Sahoo, Chad A Shaw, Andrew S Young, et al.
American Journal of Medical Genetics. Part A|March 26, 2014
The intellectual disabilities evaluation and advice system (IDEAS): outcome of the first 55 casesAlasdair G W Hunter, John M Graham, Giovanni Neri, et al.
American Journal of Medical Genetics. Part A|June 14, 2014
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndromeAmanda S Lindy, Caleb P Bupp, Stephen J McGee, et al.
European Journal of Medical Genetics|February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosisJulia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in malesRoger E Stevenson, Cam K Brasington, Cindy Skinner, et al.
Human Genetics|March 26, 2009
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linkedFatima Abidi, Lynda Holloway, Cynthia A Moore, et al.
Human Genetics|March 26, 2009
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linkedFatima Abidi, Lynda Holloway, Cynthia A Moore, et al.
Pageof 16