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R DuPont

Showing results (101-110 of 135) with videos related to

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Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|January 19, 2023
Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndromeJiyong Wang, Angie Lichty, Jill Johnson, et al.
Clinical Case Reports|April 15, 2022
Multi-tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case reportWilberg A Moncada Arita, Eduardo Smelin Perdomo Domínguez, Astrid Yohaly Rivera Caballero, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2013
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndromeSara M Sarasua, Alka Dwivedi, Luigi Boccuto, et al.
Ophthalmic Genetics|November 28, 2009
Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4Ajaz M Siddiqui, David B Everman, R Curtis Rogers, et al.
Clinical Genetics|November 17, 2007
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autismS S Bhat, S Ladd, F Grass, et al.
American Journal of Human Genetics|November 18, 2008
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disabilityKavita Bhalla, Yue Luo, Tim Buchan, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3Jayson D Rodriguez, Shambhu S Bhat, Ilaria Meloni, et al.
Journal of Dental Research|June 1, 2000
Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth developmentC C Hu, T C Hart, B R Dupont, et al.
American Journal of Medical Genetics. Part A|August 8, 2023
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex developmentSamin A Sajan, Carolyn M Brown, Laura Davis-Keppen, et al.
American Journal of Medical Genetics|July 16, 1999
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18qJ D Cody, P D Ghidoni, B R DuPont, et al.
Pageof 14

Showing results (101-110 of 135) with videos related to

Sort By:
Pageof 14
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|January 19, 2023
Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndromeJiyong Wang, Angie Lichty, Jill Johnson, et al.
Clinical Case Reports|April 15, 2022
Multi-tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case reportWilberg A Moncada Arita, Eduardo Smelin Perdomo Domínguez, Astrid Yohaly Rivera Caballero, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2013
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndromeSara M Sarasua, Alka Dwivedi, Luigi Boccuto, et al.
Ophthalmic Genetics|November 28, 2009
Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4Ajaz M Siddiqui, David B Everman, R Curtis Rogers, et al.
Clinical Genetics|November 17, 2007
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autismS S Bhat, S Ladd, F Grass, et al.
American Journal of Human Genetics|November 18, 2008
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disabilityKavita Bhalla, Yue Luo, Tim Buchan, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3Jayson D Rodriguez, Shambhu S Bhat, Ilaria Meloni, et al.
Journal of Dental Research|June 1, 2000
Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth developmentC C Hu, T C Hart, B R Dupont, et al.
American Journal of Medical Genetics. Part A|August 8, 2023
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex developmentSamin A Sajan, Carolyn M Brown, Laura Davis-Keppen, et al.
American Journal of Medical Genetics|July 16, 1999
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18qJ D Cody, P D Ghidoni, B R DuPont, et al.
Pageof 14