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Brandon S Stone

Showing results (1-10 of 5) with videos related to

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The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|February 25, 2026
A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic HerniaKaterina L Aris, Richard E Kirschner, Emily Hrach, et al.
American Journal of Medical Genetics. Part A|June 2, 2025
A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation DisorderBrandon S Stone, Swetha Ramadesikan, Regan McGinley, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
NPJ Genomic Medicine|December 18, 2024
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromesIftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|February 25, 2026
A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic HerniaKaterina L Aris, Richard E Kirschner, Emily Hrach, et al.
American Journal of Medical Genetics. Part A|June 2, 2025
A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation DisorderBrandon S Stone, Swetha Ramadesikan, Regan McGinley, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
NPJ Genomic Medicine|December 18, 2024
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromesIftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Pageof 1