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Showing results (81-90 of 173) with videos related to

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American Journal on Intellectual and Developmental Disabilities|January 3, 2022
Anxiety in Angelman SyndromeStacey C Grebe, Danica L Limon, Morgan M McNeel, et al.
American Journal of Medical Genetics. Part A|February 23, 2022
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literatureChristina L Magyar, David R Murdock, Lindsay C Burrage, et al.
Clinical Chemistry|January 3, 2025
Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic CoverageMatthew Hoi Kin Chau, Stephanie A Anderson, Rodger Song, et al.
Pediatrics|December 3, 2008
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysisXin-Yan Lu, Mai T Phung, Chad A Shaw, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|August 24, 2010
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlationsJennifer K Gentile, Wen-Hann Tan, Lucia T Horowitz, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysisSirisha Peddibhotla, Mohamed Khalifa, Frank J Probst, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2024
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of lifeRavi Savarirayan, Melita Irving, William R Wilcox, et al.
American Journal of Medical Genetics. Part A|July 30, 2008
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 casesLina Shao, Chad A Shaw, Xin-Yan Lu, et al.
American Journal of Human Genetics|February 24, 2009
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasiaDeborah Krakow, Joris Vriens, Natalia Camacho, et al.
The Journal of Clinical Investigation|October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testingDavid R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
Pageof 18

Showing results (81-90 of 173) with videos related to

Sort By:
Pageof 18
American Journal on Intellectual and Developmental Disabilities|January 3, 2022
Anxiety in Angelman SyndromeStacey C Grebe, Danica L Limon, Morgan M McNeel, et al.
American Journal of Medical Genetics. Part A|February 23, 2022
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literatureChristina L Magyar, David R Murdock, Lindsay C Burrage, et al.
Clinical Chemistry|January 3, 2025
Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic CoverageMatthew Hoi Kin Chau, Stephanie A Anderson, Rodger Song, et al.
Pediatrics|December 3, 2008
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysisXin-Yan Lu, Mai T Phung, Chad A Shaw, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|August 24, 2010
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlationsJennifer K Gentile, Wen-Hann Tan, Lucia T Horowitz, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysisSirisha Peddibhotla, Mohamed Khalifa, Frank J Probst, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2024
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of lifeRavi Savarirayan, Melita Irving, William R Wilcox, et al.
American Journal of Medical Genetics. Part A|July 30, 2008
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 casesLina Shao, Chad A Shaw, Xin-Yan Lu, et al.
American Journal of Human Genetics|February 24, 2009
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasiaDeborah Krakow, Joris Vriens, Natalia Camacho, et al.
The Journal of Clinical Investigation|October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testingDavid R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
Pageof 18