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Mitchell W Dillon

Showing results (1-10 of 8) with videos related to

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Prenatal Diagnosis|February 27, 2016
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorderFahad Hakami, Mitchell W Dillon, Matthew Lebo, et al.
Clinical Dysmorphology|October 19, 2016
RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformationsVerity L Hartill, Mitchell W Dillon, Daniel J Warren, et al.
Molecular Genetics & Genomic Medicine|February 29, 2020
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1Leora Witkowski, Mitchell W Dillon, Elissa Murphy, et al.
Clinical Pharmacology and Therapeutics|June 28, 2020
Clinical Pharmacogenetic Testing and the Posttest Counseling ConundrumRobert Rigobello, Shahad Rahawi, Richard Wallsten, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2018
ClinGen's RASopathy Expert Panel consensus methods for variant interpretationBruce D Gelb, Hélène Cavé, Mitchell W Dillon, et al.
Human Mutation|October 13, 2018
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation frameworkAndrew R Grant, Brandon J Cushman, Hélène Cavé, et al.
Molecular Genetics & Genomic Medicine|December 28, 2019
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patientsGidon Akler, Ashley H Birch, Nicole Schreiber-Agus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Prenatal Diagnosis|February 27, 2016
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorderFahad Hakami, Mitchell W Dillon, Matthew Lebo, et al.
Clinical Dysmorphology|October 19, 2016
RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformationsVerity L Hartill, Mitchell W Dillon, Daniel J Warren, et al.
Molecular Genetics & Genomic Medicine|February 29, 2020
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1Leora Witkowski, Mitchell W Dillon, Elissa Murphy, et al.
Clinical Pharmacology and Therapeutics|June 28, 2020
Clinical Pharmacogenetic Testing and the Posttest Counseling ConundrumRobert Rigobello, Shahad Rahawi, Richard Wallsten, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2018
ClinGen's RASopathy Expert Panel consensus methods for variant interpretationBruce D Gelb, Hélène Cavé, Mitchell W Dillon, et al.
Human Mutation|October 13, 2018
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation frameworkAndrew R Grant, Brandon J Cushman, Hélène Cavé, et al.
Molecular Genetics & Genomic Medicine|December 28, 2019
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patientsGidon Akler, Ashley H Birch, Nicole Schreiber-Agus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
Pageof 1