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Courtney Kiss

Showing results (1-10 of 11) with videos related to

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Case Reports in Pediatrics|October 15, 2016
Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall StatureSarah Abdullah, William Reginold, Courtney Kiss, et al.
Frontiers in Genetics|September 5, 2022
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndromeLaura Moreno-Leon, Marco A Quezada-Ramirez, Evan Bilsbury, et al.
American Journal of Medical Genetics. Part A|March 22, 2022
Novel FGF9 variant contributes to multiple synostoses syndrome 3Stephanie M Dobson, Courtney Kiss, Daniel Borschneck, et al.
Fetal Diagnosis and Therapy|May 17, 2017
Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility StudyYanwei Xi, Aryan Arbabi, Amy J M McNaughton, et al.
NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.
Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2018
The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Case Reports in Pediatrics|October 15, 2016
Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall StatureSarah Abdullah, William Reginold, Courtney Kiss, et al.
Frontiers in Genetics|September 5, 2022
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndromeLaura Moreno-Leon, Marco A Quezada-Ramirez, Evan Bilsbury, et al.
American Journal of Medical Genetics. Part A|March 22, 2022
Novel FGF9 variant contributes to multiple synostoses syndrome 3Stephanie M Dobson, Courtney Kiss, Daniel Borschneck, et al.
Fetal Diagnosis and Therapy|May 17, 2017
Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility StudyYanwei Xi, Aryan Arbabi, Amy J M McNaughton, et al.
NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.
Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2018
The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Pageof 2