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Julie R Jones

Showing results (11-20 of 62) with videos related to

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Pediatric Dermatology|July 25, 2020
Filling in the gaps on FILS syndrome: A case report and literature reviewChelsea Eason, Ahmad Aleisa, Julie R Jones, et al.
Genesis (New York, N.Y. : 2000)|February 22, 2002
Generation and functional confirmation of a conditional null PPARgamma allele in miceJulie R Jones, Kathy D Shelton, Youfei Guan, et al.
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 disordersJulie R Jones, Cindy Skinner, Michael J Friez, et al.
American Journal of Medical Genetics. Part A|August 30, 2016
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic featuresJoshua A Smith, Kenton R Holden, Michael J Friez, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopeniaPhilip F Giampietro, Mei W Baker, Monica J Basehore, et al.
Clinical Case Reports|April 11, 2023
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophyCamerun Washington, Elliot S Stolerman, Jessica A Cooley-Coleman, et al.
Human Molecular Genetics|January 10, 2019
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexesDavid C Gershlick, Morié Ishida, Julie R Jones, et al.
Genetic Testing and Molecular Biomarkers|January 10, 2012
Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1Monica J Basehore, Natalia M Marlowe, Julie R Jones, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patientsHiromi Koso Nishimoto, Kyungsoo Ha, Julie R Jones, et al.
Biotechniques|October 23, 2012
Improving the limit of detection for Sanger sequencing: A comparison of methodologies for KRAS variant detectionColin J Davidson, Emily Zeringer, Kristen J Champion, et al.
Pageof 7

Showing results (11-20 of 62) with videos related to

Sort By:
Pageof 7
Pediatric Dermatology|July 25, 2020
Filling in the gaps on FILS syndrome: A case report and literature reviewChelsea Eason, Ahmad Aleisa, Julie R Jones, et al.
Genesis (New York, N.Y. : 2000)|February 22, 2002
Generation and functional confirmation of a conditional null PPARgamma allele in miceJulie R Jones, Kathy D Shelton, Youfei Guan, et al.
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 disordersJulie R Jones, Cindy Skinner, Michael J Friez, et al.
American Journal of Medical Genetics. Part A|August 30, 2016
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic featuresJoshua A Smith, Kenton R Holden, Michael J Friez, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopeniaPhilip F Giampietro, Mei W Baker, Monica J Basehore, et al.
Clinical Case Reports|April 11, 2023
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophyCamerun Washington, Elliot S Stolerman, Jessica A Cooley-Coleman, et al.
Human Molecular Genetics|January 10, 2019
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexesDavid C Gershlick, Morié Ishida, Julie R Jones, et al.
Genetic Testing and Molecular Biomarkers|January 10, 2012
Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1Monica J Basehore, Natalia M Marlowe, Julie R Jones, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patientsHiromi Koso Nishimoto, Kyungsoo Ha, Julie R Jones, et al.
Biotechniques|October 23, 2012
Improving the limit of detection for Sanger sequencing: A comparison of methodologies for KRAS variant detectionColin J Davidson, Emily Zeringer, Kristen J Champion, et al.
Pageof 7