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Mary Kay Koenig

Showing results (71-80 of 82) with videos related to

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Molecular Genetics and Metabolism|July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort studySebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Orphanet Journal of Rare Diseases|November 22, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
Response to Newman et alSumit Parikh, Amy Goldstein, Amel Karaa, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics|September 8, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Pageof 9

Showing results (71-80 of 82) with videos related to

Sort By:
Pageof 9
Molecular Genetics and Metabolism|July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort studySebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Orphanet Journal of Rare Diseases|November 22, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
Response to Newman et alSumit Parikh, Amy Goldstein, Amel Karaa, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics|September 8, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Pageof 9