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T Emrick

Showing results (21-30 of 37) with videos related to

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American Journal of Medical Genetics. Part A|December 21, 2018
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literatureMaureen Handoko, Lisa T Emrick, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytesLisa T Emrick, Lauren Murphy, Alireza A Shamshirsaz, et al.
Frontiers in Neuroscience|February 22, 2020
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Frontiers in Neuroscience|May 29, 2019
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Molecular Genetics and Metabolism Reports|August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumTaraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.
Molecular Genetics and Metabolism|September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world dataIsabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrumLisa T Emrick, Jill A Rosenfeld, Seema R Lalani, et al.
Molecular Genetics and Metabolism|March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approachLaura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
Molecular Genetics and Metabolism|March 17, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, et al.
Pageof 4

Showing results (21-30 of 37) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|December 21, 2018
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literatureMaureen Handoko, Lisa T Emrick, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytesLisa T Emrick, Lauren Murphy, Alireza A Shamshirsaz, et al.
Frontiers in Neuroscience|February 22, 2020
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Frontiers in Neuroscience|May 29, 2019
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Molecular Genetics and Metabolism Reports|August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumTaraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.
Molecular Genetics and Metabolism|September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world dataIsabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrumLisa T Emrick, Jill A Rosenfeld, Seema R Lalani, et al.
Molecular Genetics and Metabolism|March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approachLaura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
Molecular Genetics and Metabolism|March 17, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, et al.
Pageof 4