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Matthew A Deardorff

Showing results (61-70 of 128) with videos related to

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Science Advances|February 18, 2021
The chromatin remodeler ISWI acts during <i>Drosophila</i> development to regulate adult sleepNaihua N Gong, Leela Chakravarti Dilley, Charlette E Williams, et al.
Annals of Neurology|September 25, 2024
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental DisordersSiddharth Srivastava, Jordan J Cole, Julie S Cohen, et al.
Plos Biology|May 27, 2009
Transcriptional dysregulation in NIPBL and cohesin mutant human cellsJinglan Liu, Zhe Zhang, Masashige Bando, et al.
Molecular Genetics and Metabolism|June 6, 2008
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseasesMatthew A Deardorff, Himabindu Gaddipati, Paige Kaplan, et al.
Genes|February 26, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of <i>ANKRD11</i> Cause KBG SyndromeAiko Iwata-Otsubo, Alyssa L Rippert, Jorune Balciuniene, et al.
Pediatric Dermatology|April 8, 2020
Segmental congenital hemangiomas: Three cases of a rare entityRobert J Smith, Denise Metry, Matthew A Deardorff, et al.
Molecular Syndromology|August 17, 2023
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive DevelopmentKosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, et al.
Human Genomics|November 13, 2015
Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligamentsYichuan Liu, Yun Li, Michael E March, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 31, 2019
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and managementKelly A Duffy, Christopher M Cielo, Jennifer L Cohen, et al.
American Journal of Medical Genetics. Part A|December 8, 2021
Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020Chris Oliver, Laura Groves, Blake D Hansen, et al.
Pageof 13

Showing results (61-70 of 128) with videos related to

Sort By:
Pageof 13
Science Advances|February 18, 2021
The chromatin remodeler ISWI acts during <i>Drosophila</i> development to regulate adult sleepNaihua N Gong, Leela Chakravarti Dilley, Charlette E Williams, et al.
Annals of Neurology|September 25, 2024
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental DisordersSiddharth Srivastava, Jordan J Cole, Julie S Cohen, et al.
Plos Biology|May 27, 2009
Transcriptional dysregulation in NIPBL and cohesin mutant human cellsJinglan Liu, Zhe Zhang, Masashige Bando, et al.
Molecular Genetics and Metabolism|June 6, 2008
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseasesMatthew A Deardorff, Himabindu Gaddipati, Paige Kaplan, et al.
Genes|February 26, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of <i>ANKRD11</i> Cause KBG SyndromeAiko Iwata-Otsubo, Alyssa L Rippert, Jorune Balciuniene, et al.
Pediatric Dermatology|April 8, 2020
Segmental congenital hemangiomas: Three cases of a rare entityRobert J Smith, Denise Metry, Matthew A Deardorff, et al.
Molecular Syndromology|August 17, 2023
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive DevelopmentKosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, et al.
Human Genomics|November 13, 2015
Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligamentsYichuan Liu, Yun Li, Michael E March, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 31, 2019
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and managementKelly A Duffy, Christopher M Cielo, Jennifer L Cohen, et al.
American Journal of Medical Genetics. Part A|December 8, 2021
Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020Chris Oliver, Laura Groves, Blake D Hansen, et al.
Pageof 13