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Linda Z Rossetti

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 28, 2024
On stillnessLinda Z Rossetti
American Journal of Medical Genetics. Part A|April 3, 2024
A novel 3q interstitial deletion including GATA2 and ZNF148: A case reportElizabeth Martin, Elizabeth A VanSickle, Linda Z Rossetti
Cold Spring Harbor Molecular Case Studies|March 24, 2023
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in <i>P3H1</i>-further expansion of the phenotypic spectrumKristen A Mikhail, Elizabeth VanSickle, Linda Z Rossetti
American Journal of Medical Genetics. Part A|July 9, 2024
Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementationTaylor A Bejma, Willa S Beidler, Elizabeth A VanSickle, et al.
American Journal of Medical Genetics. Part A|September 5, 2020
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case reportBrady Slater, Kevin Glinton, Hongzheng Dai, et al.
American Journal of Medical Genetics. Part A|May 10, 2019
Review of the phenotypic spectrum associated with haploinsufficiency of MYRFLinda Z Rossetti, Kevin Glinton, Bo Yuan, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal cloudingPaul R Mark, Stephen A Murray, Tao Yang, et al.
Neurology. Genetics|December 25, 2019
<i>GNA11</i> brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularisJoseph M Sliepka, Sarah C McGriff, Linda Z Rossetti, et al.
Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
HGG Advances|March 5, 2021
Germline mutation in <i>POLR2A</i>: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulationAdam W Hansen, Payal Arora, Michael M Khayat, et al.
Pageof 2

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

Sort By:
Pageof 2
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 28, 2024
On stillnessLinda Z Rossetti
American Journal of Medical Genetics. Part A|April 3, 2024
A novel 3q interstitial deletion including GATA2 and ZNF148: A case reportElizabeth Martin, Elizabeth A VanSickle, Linda Z Rossetti
Cold Spring Harbor Molecular Case Studies|March 24, 2023
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in <i>P3H1</i>-further expansion of the phenotypic spectrumKristen A Mikhail, Elizabeth VanSickle, Linda Z Rossetti
American Journal of Medical Genetics. Part A|July 9, 2024
Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementationTaylor A Bejma, Willa S Beidler, Elizabeth A VanSickle, et al.
American Journal of Medical Genetics. Part A|September 5, 2020
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case reportBrady Slater, Kevin Glinton, Hongzheng Dai, et al.
American Journal of Medical Genetics. Part A|May 10, 2019
Review of the phenotypic spectrum associated with haploinsufficiency of MYRFLinda Z Rossetti, Kevin Glinton, Bo Yuan, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal cloudingPaul R Mark, Stephen A Murray, Tao Yang, et al.
Neurology. Genetics|December 25, 2019
<i>GNA11</i> brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularisJoseph M Sliepka, Sarah C McGriff, Linda Z Rossetti, et al.
Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
HGG Advances|March 5, 2021
Germline mutation in <i>POLR2A</i>: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulationAdam W Hansen, Payal Arora, Michael M Khayat, et al.
Pageof 2