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Roger E Stevenson

Showing results (81-90 of 158) with videos related to

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American Journal of Medical Genetics. Part A|April 13, 2011
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphismKarl J Franek, Julia Butler, John Johnson, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3Jayson D Rodriguez, Shambhu S Bhat, Ilaria Meloni, et al.
European Journal of Human Genetics : EJHG|October 28, 2004
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndromeFatima E Abidi, Carlos Cardoso, Anne-Marie Lossi, et al.
European Journal of Human Genetics : EJHG|September 26, 2003
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndromeA Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, et al.
Pediatrics|November 8, 2006
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28Michael J Friez, Julie R Jones, Katie Clarkson, et al.
Biology|May 26, 2018
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome PresentationClemer Abad, Melissa M Cook, Lei Cao, et al.
Science (New York, N.Y.)|June 29, 2002
AGTR2 mutations in X-linked mental retardationVirginie S Vervoort, Michael A Beachem, Penny S Edwards, et al.
European Journal of Human Genetics : EJHG|February 16, 2023
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathySadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?Paul Kruszka, Annette Uwineza, Leon Mutesa, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 9, 2011
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autismRebeca Mejias, Abby Adamczyk, Victor Anggono, et al.
Pageof 16

Showing results (81-90 of 158) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|April 13, 2011
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphismKarl J Franek, Julia Butler, John Johnson, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3Jayson D Rodriguez, Shambhu S Bhat, Ilaria Meloni, et al.
European Journal of Human Genetics : EJHG|October 28, 2004
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndromeFatima E Abidi, Carlos Cardoso, Anne-Marie Lossi, et al.
European Journal of Human Genetics : EJHG|September 26, 2003
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndromeA Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, et al.
Pediatrics|November 8, 2006
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28Michael J Friez, Julie R Jones, Katie Clarkson, et al.
Biology|May 26, 2018
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome PresentationClemer Abad, Melissa M Cook, Lei Cao, et al.
Science (New York, N.Y.)|June 29, 2002
AGTR2 mutations in X-linked mental retardationVirginie S Vervoort, Michael A Beachem, Penny S Edwards, et al.
European Journal of Human Genetics : EJHG|February 16, 2023
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathySadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?Paul Kruszka, Annette Uwineza, Leon Mutesa, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 9, 2011
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autismRebeca Mejias, Abby Adamczyk, Victor Anggono, et al.
Pageof 16