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American Journal of Medical Genetics. Part A
|
August 14, 2008
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders
Julie R Jones, Cindy Skinner, Michael J Friez, et al.
JIMD Reports
|
March 6, 2023
Compound heterozygous variants within two conserved sialyltransferase motifs of <i>ST3GAL5</i> cause GM3 synthase deficiency
Natasha Rudy, Kazuhiro Aoki, Amitha Ananth, et al.
American Journal of Medical Genetics. Part A
|
October 27, 2022
X-Linked intellectual disability update 2022
Charles E Schwartz, Raymond J Louie, Annick Toutain, et al.
American Journal of Medical Genetics. Part A
|
July 19, 2020
Schimke XLID syndrome results from a deletion in BCAP31
Raymond J Louie, Debra L Collins, Michael J Friez, et al.
The Journal of Molecular Diagnostics : JMD
|
September 2, 2016
Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array
Laila C Schenkel, Charles Schwartz, Cindy Skinner, et al.
Autism Research : Official Journal of the International Society for Autism Research
|
August 15, 2009
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder
Pamela B Jackson, Luigi Boccuto, Cindy Skinner, et al.
Brain Communications
|
May 23, 2022
Disruption of cellular iron homeostasis by <i>IREB2</i> missense variants causes severe neurodevelopmental delay, dystonia and seizures
Nunziata Maio, Russell P Saneto, Richard Steet, et al.
Plos One
|
February 14, 2015
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes
Tejasvi S Niranjan, Cindy Skinner, Melanie May, et al.
International Journal of Molecular Sciences
|
July 14, 2023
Defining the 3'Epigenetic Boundary of the <i>FMR1</i> Promoter and Its Loss in Individuals with Fragile X Syndrome
David E Godler, Yoshimi Inaba, Minh Q Bui, 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 TRIP12
Raymond J Louie, Michael J Friez, Cindy Skinner, et al.
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of 9
Search research articles
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Showing results (1-10 of 81) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics. Part A
|
August 14, 2008
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders
Julie R Jones, Cindy Skinner, Michael J Friez, et al.
JIMD Reports
|
March 6, 2023
Compound heterozygous variants within two conserved sialyltransferase motifs of <i>ST3GAL5</i> cause GM3 synthase deficiency
Natasha Rudy, Kazuhiro Aoki, Amitha Ananth, et al.
American Journal of Medical Genetics. Part A
|
October 27, 2022
X-Linked intellectual disability update 2022
Charles E Schwartz, Raymond J Louie, Annick Toutain, et al.
American Journal of Medical Genetics. Part A
|
July 19, 2020
Schimke XLID syndrome results from a deletion in BCAP31
Raymond J Louie, Debra L Collins, Michael J Friez, et al.
The Journal of Molecular Diagnostics : JMD
|
September 2, 2016
Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array
Laila C Schenkel, Charles Schwartz, Cindy Skinner, et al.
Autism Research : Official Journal of the International Society for Autism Research
|
August 15, 2009
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder
Pamela B Jackson, Luigi Boccuto, Cindy Skinner, et al.
Brain Communications
|
May 23, 2022
Disruption of cellular iron homeostasis by <i>IREB2</i> missense variants causes severe neurodevelopmental delay, dystonia and seizures
Nunziata Maio, Russell P Saneto, Richard Steet, et al.
Plos One
|
February 14, 2015
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes
Tejasvi S Niranjan, Cindy Skinner, Melanie May, et al.
International Journal of Molecular Sciences
|
July 14, 2023
Defining the 3'Epigenetic Boundary of the <i>FMR1</i> Promoter and Its Loss in Individuals with Fragile X Syndrome
David E Godler, Yoshimi Inaba, Minh Q Bui, 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 TRIP12
Raymond J Louie, Michael J Friez, Cindy Skinner, et al.
Page
of 9