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Showing results (341-350 of 430) with videos related to

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European Stroke Journal|September 3, 2025
Development of a blood-based lipidomic fat quality score for the risk of ischemic strokeIolanda Lázaro, Leila Luján-Barroso, Natalia Soldevila-Domenech, et al.
Molecular Genetics & Genomic Medicine|September 24, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature reviewNatalie B Tan, Rachel Stapleton, Zornitza Stark, et al.
Kidney International|June 1, 2022
Preemptive simultaneous pancreas kidney transplantation has survival benefit to patientsEnrique Montagud-Marrahi, Elena Cuadrado-Payán, Evelyn Hermida, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2012
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation studyYoshimi Inaba, Amy S Herlihy, Charles E Schwartz, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
European Heart Journal|April 24, 2016
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathyDean G Phelan, David J Anderson, Sara E Howden, et al.
JAMA Network Open|January 4, 2022
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic WorkflowDavid E Godler, Ling Ling, Dinusha Gamage, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation updateClaire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, et al.
Annals of Neurology|August 19, 2015
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernández, et al.
Journal of Neurodevelopmental Disorders|December 28, 2019
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndromeEmma K Baker, Marta Arpone, Solange Aliaga Vera, et al.
Pageof 43

Showing results (341-350 of 430) with videos related to

Sort By:
Pageof 43
European Stroke Journal|September 3, 2025
Development of a blood-based lipidomic fat quality score for the risk of ischemic strokeIolanda Lázaro, Leila Luján-Barroso, Natalia Soldevila-Domenech, et al.
Molecular Genetics & Genomic Medicine|September 24, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature reviewNatalie B Tan, Rachel Stapleton, Zornitza Stark, et al.
Kidney International|June 1, 2022
Preemptive simultaneous pancreas kidney transplantation has survival benefit to patientsEnrique Montagud-Marrahi, Elena Cuadrado-Payán, Evelyn Hermida, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2012
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation studyYoshimi Inaba, Amy S Herlihy, Charles E Schwartz, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
European Heart Journal|April 24, 2016
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathyDean G Phelan, David J Anderson, Sara E Howden, et al.
JAMA Network Open|January 4, 2022
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic WorkflowDavid E Godler, Ling Ling, Dinusha Gamage, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation updateClaire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, et al.
Annals of Neurology|August 19, 2015
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernández, et al.
Journal of Neurodevelopmental Disorders|December 28, 2019
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndromeEmma K Baker, Marta Arpone, Solange Aliaga Vera, et al.
Pageof 43