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Laura K Conlin

Showing results (41-50 of 85) with videos related to

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Journal of Human Genetics|April 12, 2020
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitaliaRie Kawamura, Takema Kato, Shunsuke Miyai, et al.
American Journal of Medical Genetics. Part A|December 8, 2011
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairmentLauren J Francey, Laura K Conlin, Hanna E Kadesch, et al.
American Journal of Hematology|September 30, 2017
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disordersEdward J Romasko, Batsal Devkota, Sawona Biswas, et al.
Annals of Neurology|February 1, 2011
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophyA Reghan Foley, Ying Hu, Yaqun Zou, et al.
Journal of Medical Genetics|November 8, 2015
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndromeJennifer M Kalish, Kara E Boodhansingh, Tricia R Bhatti, et al.
Neurology. Genetics|February 10, 2017
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7Consuelo Salas-Labadía, David E Cervantes-Barragán, Roberto Cruz-Alcívar, et al.
Genome Biology and Evolution|February 1, 2024
The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing SelectionTristan J Hayeck, Yang Li, Timothy L Mosbruger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing lossQiaoning Guan, Jorune Balciuniene, Kajia Cao, et al.
Human Mutation|December 6, 2008
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variationBinita M Kamath, Brian D Thiel, Xiaowu Gai, et al.
Pageof 9

Showing results (41-50 of 85) with videos related to

Sort By:
Pageof 9
Journal of Human Genetics|April 12, 2020
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitaliaRie Kawamura, Takema Kato, Shunsuke Miyai, et al.
American Journal of Medical Genetics. Part A|December 8, 2011
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairmentLauren J Francey, Laura K Conlin, Hanna E Kadesch, et al.
American Journal of Hematology|September 30, 2017
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disordersEdward J Romasko, Batsal Devkota, Sawona Biswas, et al.
Annals of Neurology|February 1, 2011
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophyA Reghan Foley, Ying Hu, Yaqun Zou, et al.
Journal of Medical Genetics|November 8, 2015
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndromeJennifer M Kalish, Kara E Boodhansingh, Tricia R Bhatti, et al.
Neurology. Genetics|February 10, 2017
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7Consuelo Salas-Labadía, David E Cervantes-Barragán, Roberto Cruz-Alcívar, et al.
Genome Biology and Evolution|February 1, 2024
The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing SelectionTristan J Hayeck, Yang Li, Timothy L Mosbruger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing lossQiaoning Guan, Jorune Balciuniene, Kajia Cao, et al.
Human Mutation|December 6, 2008
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variationBinita M Kamath, Brian D Thiel, Xiaowu Gai, et al.
Pageof 9