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Roger E Stevenson

Showing results (61-70 of 158) with videos related to

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Molecular Genetics & Genomic Medicine|November 9, 2019
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum DisorderLauren Cascio, Chin-Fu Chen, Rini Pauly, 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|June 2, 2006
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiologyAmy J Clark, Efraim H Rosenberg, Ligia S Almeida, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domainJules G Leroy, David Sillence, Tim Wood, et al.
Journal of Child Neurology|August 2, 2002
Dietary intake and blood folate levels in Honduran women of childbearing ageKenton R Holden, Julianne S Collins, Jennifer F Greene, et al.
Genome Research|March 19, 2025
Optical genome mapping identifies rare structural variants in neural tube defectsNikhil S Sahajpal, Jane Dean, Benjamin Hilton, et al.
American Journal of Human Genetics|March 17, 2004
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephalyClaus Lenski, Fatima Abidi, Alfons Meindl, et al.
Journal of Autism and Developmental Disorders|June 28, 2020
Autistic Disorder: A 20 Year ChronicleCindy Skinner, Rini Pauly, Steven A Skinner, et al.
American Journal of Medical Genetics. Part A|March 23, 2005
Renpenning syndrome comes into focusRoger E Stevenson, C W Bennett, F Abidi, et al.
Molecular Autism|June 5, 2013
Decreased tryptophan metabolism in patients with autism spectrum disordersLuigi Boccuto, Chin-Fu Chen, Ayla R Pittman, et al.
Pageof 16

Showing results (61-70 of 158) with videos related to

Sort By:
Pageof 16
Molecular Genetics & Genomic Medicine|November 9, 2019
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum DisorderLauren Cascio, Chin-Fu Chen, Rini Pauly, 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|June 2, 2006
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiologyAmy J Clark, Efraim H Rosenberg, Ligia S Almeida, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domainJules G Leroy, David Sillence, Tim Wood, et al.
Journal of Child Neurology|August 2, 2002
Dietary intake and blood folate levels in Honduran women of childbearing ageKenton R Holden, Julianne S Collins, Jennifer F Greene, et al.
Genome Research|March 19, 2025
Optical genome mapping identifies rare structural variants in neural tube defectsNikhil S Sahajpal, Jane Dean, Benjamin Hilton, et al.
American Journal of Human Genetics|March 17, 2004
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephalyClaus Lenski, Fatima Abidi, Alfons Meindl, et al.
Journal of Autism and Developmental Disorders|June 28, 2020
Autistic Disorder: A 20 Year ChronicleCindy Skinner, Rini Pauly, Steven A Skinner, et al.
American Journal of Medical Genetics. Part A|March 23, 2005
Renpenning syndrome comes into focusRoger E Stevenson, C W Bennett, F Abidi, et al.
Molecular Autism|June 5, 2013
Decreased tryptophan metabolism in patients with autism spectrum disordersLuigi Boccuto, Chin-Fu Chen, Ayla R Pittman, et al.
Pageof 16