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Neuromuscular Disorders : NMD
|
March 9, 2016
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study
Ahmed K Bamaga, Sheila Riazi, Kimberly Amburgey, et al.
Neurogenetics
|
June 9, 2016
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia
Tiago A Mestre, Andreea Manole, Heather MacDonald, et al.
Clinical Genetics
|
March 13, 2021
GCH1 mutations in hereditary spastic paraplegia
Parizad Varghaei, Grace Yoon, Mehrdad A Estiar, et al.
Neurology
|
July 17, 2023
Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy: Clues to an Ultrarare <i>ACO2</i>-Related Neurometabolic Diagnosis
Noor Lail, Ashutosh K Pandey, Sundararajan Venkatesh, et al.
Burns : Journal of the International Society for Burn Injuries
|
December 22, 2018
Epidemiological analysis of pediatric burns in the Dominican Republic reveals a demographic profile at significant risk for electrical burns
Sarthak Sinha, Cinthia M Nuñez Martinez, Rebecca L Hartley, et al.
Molecular Cancer Research : MCR
|
January 26, 2021
Loss of Aryl Hydrocarbon Receptor Promotes Colon Tumorigenesis in <i>Apc</i> Mice
Huajun Han, Laurie A Davidson, Martha Hensel, et al.
Neuromuscular Disorders : NMD
|
May 1, 2024
A novel deep intronic variant in LAMA2 identified by RNA sequencing
Djurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, et al.
Nature Communications
|
August 26, 2022
BRAT1 links Integrator and defective RNA processing with neurodegeneration
Zuzana Cihlarova, Jan Kubovciak, Margarita Sobol, et al.
The Journal of Pediatrics
|
January 31, 2016
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
Grace Yoon, Zeenat Malam, Tara Paton, et al.
Journal of Medical Genetics
|
June 20, 2025
Biallelic <i>SIDT2</i> loss-of-function in a child with cerebellar ataxia and lysosomal dysfunction mimics impairment of <i>SIDT2</i> in mice
Tan Nguyen, Grace Yoon, Blake R C Smith, et al.
Page
of 18
Search research articles
Search
Showing results (71-80 of 177) with videos related to
Sort By:
Page
of 18
Neuromuscular Disorders : NMD
|
March 9, 2016
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study
Ahmed K Bamaga, Sheila Riazi, Kimberly Amburgey, et al.
Neurogenetics
|
June 9, 2016
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia
Tiago A Mestre, Andreea Manole, Heather MacDonald, et al.
Clinical Genetics
|
March 13, 2021
GCH1 mutations in hereditary spastic paraplegia
Parizad Varghaei, Grace Yoon, Mehrdad A Estiar, et al.
Neurology
|
July 17, 2023
Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy: Clues to an Ultrarare <i>ACO2</i>-Related Neurometabolic Diagnosis
Noor Lail, Ashutosh K Pandey, Sundararajan Venkatesh, et al.
Burns : Journal of the International Society for Burn Injuries
|
December 22, 2018
Epidemiological analysis of pediatric burns in the Dominican Republic reveals a demographic profile at significant risk for electrical burns
Sarthak Sinha, Cinthia M Nuñez Martinez, Rebecca L Hartley, et al.
Molecular Cancer Research : MCR
|
January 26, 2021
Loss of Aryl Hydrocarbon Receptor Promotes Colon Tumorigenesis in <i>Apc</i> Mice
Huajun Han, Laurie A Davidson, Martha Hensel, et al.
Neuromuscular Disorders : NMD
|
May 1, 2024
A novel deep intronic variant in LAMA2 identified by RNA sequencing
Djurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, et al.
Nature Communications
|
August 26, 2022
BRAT1 links Integrator and defective RNA processing with neurodegeneration
Zuzana Cihlarova, Jan Kubovciak, Margarita Sobol, et al.
The Journal of Pediatrics
|
January 31, 2016
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
Grace Yoon, Zeenat Malam, Tara Paton, et al.
Journal of Medical Genetics
|
June 20, 2025
Biallelic <i>SIDT2</i> loss-of-function in a child with cerebellar ataxia and lysosomal dysfunction mimics impairment of <i>SIDT2</i> in mice
Tan Nguyen, Grace Yoon, Blake R C Smith, et al.
Page
of 18