Search research articles
Contact Us
Filters
Showing results (1-10 of 51) with videos related to
Page
of 6
Sort By:
Molecular Cytogenetics
|
November 27, 2014
Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression
Sureni V Mullegama, Sarah H Elsea
European Journal of Human Genetics : EJHG
|
May 26, 2016
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Sureni V Mullegama, Sarah H Elsea
European Journal of Human Genetics : EJHG
|
August 13, 2016
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Sureni V Mullegama, Sarah H Elsea
American Journal of Medical Genetics. Part A
|
July 14, 2022
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return
Yukiko Kuroda, Alyssa Ritter, Sureni V Mullegama, et al.
International Journal of Molecular Sciences
|
April 9, 2015
Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder
Sureni V Mullegama, Joseph T Alaimo, Li Chen, et al.
Molecular Cytogenetics
|
October 8, 2015
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis
Joseph T Alaimo, Sureni V Mullegama, Mary Ann Thomas, et al.
Developmental Period Medicine
|
September 19, 2015
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience
Li Chen, Sureni V Mullegama, Joseph T Alaimo, et al.
American Journal of Human Genetics
|
May 15, 2012
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity
Stephen R Williams, Deborah Zies, Sureni V Mullegama, et al.
Molecular Genetics & Genomic Medicine
|
November 18, 2018
Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males
Sureni V Mullegama, Steven D Klein, Rebecca H Signer, et al.
Plos One
|
August 16, 2014
Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1
Joseph T Alaimo, Natalie C Hahn, Natalie H Hahn, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 51) with videos related to
Sort By:
Page
of 6
Molecular Cytogenetics
|
November 27, 2014
Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression
Sureni V Mullegama, Sarah H Elsea
European Journal of Human Genetics : EJHG
|
May 26, 2016
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Sureni V Mullegama, Sarah H Elsea
European Journal of Human Genetics : EJHG
|
August 13, 2016
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Sureni V Mullegama, Sarah H Elsea
American Journal of Medical Genetics. Part A
|
July 14, 2022
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return
Yukiko Kuroda, Alyssa Ritter, Sureni V Mullegama, et al.
International Journal of Molecular Sciences
|
April 9, 2015
Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder
Sureni V Mullegama, Joseph T Alaimo, Li Chen, et al.
Molecular Cytogenetics
|
October 8, 2015
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis
Joseph T Alaimo, Sureni V Mullegama, Mary Ann Thomas, et al.
Developmental Period Medicine
|
September 19, 2015
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience
Li Chen, Sureni V Mullegama, Joseph T Alaimo, et al.
American Journal of Human Genetics
|
May 15, 2012
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity
Stephen R Williams, Deborah Zies, Sureni V Mullegama, et al.
Molecular Genetics & Genomic Medicine
|
November 18, 2018
Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males
Sureni V Mullegama, Steven D Klein, Rebecca H Signer, et al.
Plos One
|
August 16, 2014
Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1
Joseph T Alaimo, Natalie C Hahn, Natalie H Hahn, et al.
Page
of 6