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Cindy Skinner

Showing results (11-20 of 81) with videos related to

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Psychiatric Genetics|July 17, 2008
Analysis of the neuroligin 4Y gene in patients with autismJin Yan, Jinong Feng, Richard Schroer, et al.
American Journal of Medical Genetics. Part A|September 12, 2012
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndromeRichard J Schroer, Arthur L Beaudet, Marwan Shinawi, et al.
Epigenetics|September 22, 2017
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significanceErfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, et al.
Neuroscience Letters|May 21, 2008
Neurexin 1alpha structural variants associated with autismJin Yan, Katie Noltner, Jinong Feng, et al.
European Journal of Medical Genetics|February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosisJulia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
Clinical Epigenetics|February 20, 2018
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in <i>KDM5C</i>Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, et al.
The Journal of Molecular Diagnostics : JMD|August 16, 2017
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting DisordersErfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in malesRoger E Stevenson, Cam K Brasington, Cindy Skinner, et al.
Neuroscience Letters|October 13, 2006
High frequency of neurexin 1beta signal peptide structural variants in patients with autismJinong Feng, Richard Schroer, Jin Yan, et al.
Molecular Genetics and Metabolism Reports|March 5, 2026
Characterization of a <i>UQCRC1</i> variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantationGerardo G Piroli, Rebecca Myers, Lynda Holloway, et al.
Pageof 9

Showing results (11-20 of 81) with videos related to

Sort By:
Pageof 9
Psychiatric Genetics|July 17, 2008
Analysis of the neuroligin 4Y gene in patients with autismJin Yan, Jinong Feng, Richard Schroer, et al.
American Journal of Medical Genetics. Part A|September 12, 2012
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndromeRichard J Schroer, Arthur L Beaudet, Marwan Shinawi, et al.
Epigenetics|September 22, 2017
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significanceErfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, et al.
Neuroscience Letters|May 21, 2008
Neurexin 1alpha structural variants associated with autismJin Yan, Katie Noltner, Jinong Feng, et al.
European Journal of Medical Genetics|February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosisJulia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
Clinical Epigenetics|February 20, 2018
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in <i>KDM5C</i>Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, et al.
The Journal of Molecular Diagnostics : JMD|August 16, 2017
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting DisordersErfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in malesRoger E Stevenson, Cam K Brasington, Cindy Skinner, et al.
Neuroscience Letters|October 13, 2006
High frequency of neurexin 1beta signal peptide structural variants in patients with autismJinong Feng, Richard Schroer, Jin Yan, et al.
Molecular Genetics and Metabolism Reports|March 5, 2026
Characterization of a <i>UQCRC1</i> variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantationGerardo G Piroli, Rebecca Myers, Lynda Holloway, et al.
Pageof 9