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Showing results (121-130 of 135) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
American Journal of Human Genetics|October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.
Journal of Medical Genetics|November 26, 2016
Diagnostic value of exome and whole genome sequencing in craniosynostosisKerry A Miller, Stephen R F Twigg, Simon J McGowan, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Human Genetics|April 9, 2020
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosisCristina M Justice, Araceli Cuellar, Krithi Bala, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Pageof 14

Showing results (121-130 of 135) with videos related to

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Pageof 14
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
American Journal of Human Genetics|October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.
Journal of Medical Genetics|November 26, 2016
Diagnostic value of exome and whole genome sequencing in craniosynostosisKerry A Miller, Stephen R F Twigg, Simon J McGowan, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Human Genetics|April 9, 2020
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosisCristina M Justice, Araceli Cuellar, Krithi Bala, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Pageof 14