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Guy Helman

Showing results (51-60 of 61) with videos related to

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Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
Pediatric Neurology|May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated SyndromeHannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
<i>BLOC1S1</i> variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.
American Journal of Human Genetics|March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.
Molecular Genetics and Metabolism|February 14, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophyFrancesco Gavazzi, Brittany Charsar, Eline Hamilton, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
Pediatric Neurology|May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated SyndromeHannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
<i>BLOC1S1</i> variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.
American Journal of Human Genetics|March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.
Molecular Genetics and Metabolism|February 14, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophyFrancesco Gavazzi, Brittany Charsar, Eline Hamilton, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
Pageof 7