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Showing results (521-530 of 555) with videos related to

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International Journal of Radiation Oncology, Biology, Physics|April 17, 2020
Understanding High-Dose, Ultra-High Dose Rate, and Spatially Fractionated Radiation TherapyRobert J Griffin, Mansoor M Ahmed, Beatriz Amendola, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Neurology. Genetics|April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> VariantsSaskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A Johnson, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
Human Mutation|September 24, 2017
Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.
EMBO Molecular Medicine|November 9, 2021
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypesSilvia Vidali, Raffaele Gerlini, Kyle Thompson, et al.
Pageof 56

Showing results (521-530 of 555) with videos related to

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Pageof 56
International Journal of Radiation Oncology, Biology, Physics|April 17, 2020
Understanding High-Dose, Ultra-High Dose Rate, and Spatially Fractionated Radiation TherapyRobert J Griffin, Mansoor M Ahmed, Beatriz Amendola, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Neurology. Genetics|April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> VariantsSaskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A Johnson, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
Human Mutation|September 24, 2017
Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.
EMBO Molecular Medicine|November 9, 2021
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypesSilvia Vidali, Raffaele Gerlini, Kyle Thompson, et al.
Pageof 56