Search research articles
Contact Us
Filters
Showing results (91-100 of 125) with videos related to
Page
of 13
Sort By:
BMC Genetics
|
May 22, 2007
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
Wai-Man Chan, Caroline Andrews, Laryssa Dragan, et al.
Brain : a Journal of Neurology
|
February 5, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2018
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect
Sherin Shaaban, Sarah MacKinnon, Caroline Andrews, et al.
Cell Reports
|
August 16, 2018
Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration
Alban Latremoliere, Long Cheng, Michelle DeLisle, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2016
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports
Catherine A Brownstein, Robin J Kleiman, Elizabeth C Engle, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, et al.
Nature Communications
|
August 23, 2025
Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking
Weixiong He, Peter J van der Most, Jue-Sheng Ong, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2020
Recurrent Rare Copy Number Variants Increase Risk for Esotropia
Mary C Whitman, Silvio Alessandro Di Gioia, Wai-Man Chan, et al.
Science (New York, N.Y.)
|
July 26, 2008
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome
Noriko Miyake, John Chilton, Maria Psatha, et al.
Page
of 13
Search research articles
Search
Showing results (91-100 of 125) with videos related to
Sort By:
Page
of 13
BMC Genetics
|
May 22, 2007
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
Wai-Man Chan, Caroline Andrews, Laryssa Dragan, et al.
Brain : a Journal of Neurology
|
February 5, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2018
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect
Sherin Shaaban, Sarah MacKinnon, Caroline Andrews, et al.
Cell Reports
|
August 16, 2018
Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration
Alban Latremoliere, Long Cheng, Michelle DeLisle, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2016
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports
Catherine A Brownstein, Robin J Kleiman, Elizabeth C Engle, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, et al.
Nature Communications
|
August 23, 2025
Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking
Weixiong He, Peter J van der Most, Jue-Sheng Ong, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2020
Recurrent Rare Copy Number Variants Increase Risk for Esotropia
Mary C Whitman, Silvio Alessandro Di Gioia, Wai-Man Chan, et al.
Science (New York, N.Y.)
|
July 26, 2008
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome
Noriko Miyake, John Chilton, Maria Psatha, et al.
Page
of 13