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Laura Conlin

Showing results (1-10 of 18) with videos related to

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American Journal of Medical Genetics. Part A|May 7, 2011
Significant liver disease in a patient with Y116H mutation in the MVK geneMelissa Leyva-Vega, Pamela F Weiss, Jaya Ganesh, et al.
Cytogenetic and Genome Research|December 20, 2018
The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic EventSarah Correll-Tash, Laura Conlin, Beth A Mininger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2025
The CAP/ACMG CYCGH proficiency testing program: 10 years in reviewYassmine Akkari, Laura Conlin, Diana DeAvila, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomesJason C Carson, Lori Hoffner, Laura Conlin, et al.
JAMA Network Open|April 8, 2026
Parent- and Intensivist-Reported Utility for Neonatal Genomic TestingKatharine Press Callahan, K Taylor Wild, Alexandra Heck, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid featuresRebecca Ganetzky, Erin Finn, Atrish Bagchi, et al.
Hormone Research in Paediatrics|June 15, 2018
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A HaploinsufficiencyChristopher E Gibson, Kara E Boodhansingh, Changhong Li, et al.
The Journal of Clinical Endocrinology and Metabolism|January 13, 2016
Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin EffectTricia R Bhatti, Karthik Ganapathy, Alison R Huppmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Darrel Waggoner, Karen E Wain, Adrian M Dubuc, et al.
Ejhaem|August 27, 2025
An Unusual Cause of Hexokinase 1 Deficiency-Case ReportGonench Kilich, Kelly Maurer, Tanaya Jadhav, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|May 7, 2011
Significant liver disease in a patient with Y116H mutation in the MVK geneMelissa Leyva-Vega, Pamela F Weiss, Jaya Ganesh, et al.
Cytogenetic and Genome Research|December 20, 2018
The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic EventSarah Correll-Tash, Laura Conlin, Beth A Mininger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2025
The CAP/ACMG CYCGH proficiency testing program: 10 years in reviewYassmine Akkari, Laura Conlin, Diana DeAvila, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomesJason C Carson, Lori Hoffner, Laura Conlin, et al.
JAMA Network Open|April 8, 2026
Parent- and Intensivist-Reported Utility for Neonatal Genomic TestingKatharine Press Callahan, K Taylor Wild, Alexandra Heck, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid featuresRebecca Ganetzky, Erin Finn, Atrish Bagchi, et al.
Hormone Research in Paediatrics|June 15, 2018
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A HaploinsufficiencyChristopher E Gibson, Kara E Boodhansingh, Changhong Li, et al.
The Journal of Clinical Endocrinology and Metabolism|January 13, 2016
Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin EffectTricia R Bhatti, Karthik Ganapathy, Alison R Huppmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Darrel Waggoner, Karen E Wain, Adrian M Dubuc, et al.
Ejhaem|August 27, 2025
An Unusual Cause of Hexokinase 1 Deficiency-Case ReportGonench Kilich, Kelly Maurer, Tanaya Jadhav, et al.
Pageof 2