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J Amor

Showing results (351-360 of 430) with videos related to

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Molecular Autism|May 11, 2019
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic featuresEmma K Baker, Marta Arpone, Solange M Aliaga, et al.
Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Journal of the American College of Cardiology|December 4, 2020
Remnant Cholesterol, Not LDL Cholesterol, Is Associated With Incident Cardiovascular DiseaseOlga Castañer, Xavier Pintó, Isaac Subirana, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 testsAlison Dalton Archibald, Melanie Jane Smith, Trent Burgess, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Human Molecular Genetics|May 10, 2018
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotypeIvo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, et al.
Journal of Medical Genetics|November 19, 2008
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practiceD L Bruno, D Ganesamoorthy, J Schoumans, et al.
BMJ Open|April 3, 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocolSebastian Lunke, Sophie E Bouffler, Lilian Downie, et al.
Diabetes Care|June 8, 2026
Effect of Finerenone on Albuminuria in Type 1 Diabetes by Baseline HbA1c Level and Diabetes Duration: An Exploratory Analysis of the FINE-ONE TrialJelle M Beernink, Hiddo J L Heerspink, Andreas L Birkenfeld, et al.
Pageof 43

Showing results (351-360 of 430) with videos related to

Sort By:
Pageof 43
Molecular Autism|May 11, 2019
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic featuresEmma K Baker, Marta Arpone, Solange M Aliaga, et al.
Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Journal of the American College of Cardiology|December 4, 2020
Remnant Cholesterol, Not LDL Cholesterol, Is Associated With Incident Cardiovascular DiseaseOlga Castañer, Xavier Pintó, Isaac Subirana, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 testsAlison Dalton Archibald, Melanie Jane Smith, Trent Burgess, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Human Molecular Genetics|May 10, 2018
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotypeIvo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, et al.
Journal of Medical Genetics|November 19, 2008
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practiceD L Bruno, D Ganesamoorthy, J Schoumans, et al.
BMJ Open|April 3, 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocolSebastian Lunke, Sophie E Bouffler, Lilian Downie, et al.
Diabetes Care|June 8, 2026
Effect of Finerenone on Albuminuria in Type 1 Diabetes by Baseline HbA1c Level and Diabetes Duration: An Exploratory Analysis of the FINE-ONE TrialJelle M Beernink, Hiddo J L Heerspink, Andreas L Birkenfeld, et al.
Pageof 43