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Monica Penon-Portmann

Showing results (1-10 of 21) with videos related to

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Pediatrics and Neonatology|December 4, 2022
Current and new therapies for mucopolysaccharidosesMonica Penon-Portmann, David R Blair, Paul Harmatz
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2019
Optimizing genetics online resources for diverse readersJiyoo Chang, Monica Penon-Portmann, Joseph T Shieh
Genetics in Medicine Open|December 13, 2024
Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)Monica Penon-Portmann, Sheri A Poskanzer, Jaya Ganesh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2019
Genetics workforce: distribution of genetics services and challenges to health care in CaliforniaMonica Penon-Portmann, Jiyoo Chang, Mira Cheng, et al.
Genetics in Medicine Open|December 13, 2024
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)Julie M Lander, Monica Penon-Portmann, V Reid Sutton, et al.
Molecular Syndromology|September 26, 2022
Exome Sequencing Identifies a Novel <i>SIN3A</i> Variant in a Patient with Witteveen-Kolk SyndromeMonica Penon-Portmann, Colleen M Carlston, Pierre-Marie Martin, et al.
American Journal of Medical Genetics. Part A|August 21, 2024
Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variantsMonica Penon-Portmann, Kendyl Naugle, Frank Brodie, et al.
American Journal of Medical Genetics. Part A|December 27, 2022
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomyMonica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, et al.
Pediatric Transplantation|January 16, 2026
PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case ReportBrianna A Blasingame, Amy Yang, Pamela L Valentino, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 26, 2019
X-linked duplication copy number variation in a familial overgrowth conditionThoa K Ha, Anne H Mardy, Daniah Beleford, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

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Pageof 3
Pediatrics and Neonatology|December 4, 2022
Current and new therapies for mucopolysaccharidosesMonica Penon-Portmann, David R Blair, Paul Harmatz
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2019
Optimizing genetics online resources for diverse readersJiyoo Chang, Monica Penon-Portmann, Joseph T Shieh
Genetics in Medicine Open|December 13, 2024
Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)Monica Penon-Portmann, Sheri A Poskanzer, Jaya Ganesh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2019
Genetics workforce: distribution of genetics services and challenges to health care in CaliforniaMonica Penon-Portmann, Jiyoo Chang, Mira Cheng, et al.
Genetics in Medicine Open|December 13, 2024
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)Julie M Lander, Monica Penon-Portmann, V Reid Sutton, et al.
Molecular Syndromology|September 26, 2022
Exome Sequencing Identifies a Novel <i>SIN3A</i> Variant in a Patient with Witteveen-Kolk SyndromeMonica Penon-Portmann, Colleen M Carlston, Pierre-Marie Martin, et al.
American Journal of Medical Genetics. Part A|August 21, 2024
Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variantsMonica Penon-Portmann, Kendyl Naugle, Frank Brodie, et al.
American Journal of Medical Genetics. Part A|December 27, 2022
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomyMonica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, et al.
Pediatric Transplantation|January 16, 2026
PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case ReportBrianna A Blasingame, Amy Yang, Pamela L Valentino, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 26, 2019
X-linked duplication copy number variation in a familial overgrowth conditionThoa K Ha, Anne H Mardy, Daniah Beleford, et al.
Pageof 3