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Medrxiv : the Preprint Server for Health Sciences
|
July 23, 2024
Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies
Bethany Y Norton, James Liu, Sara A Lewis, et al.
American Journal of Human Genetics
|
February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
Nature Communications
|
July 4, 2026
Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies
Dennis Yeow, Andre L M Reis, Igor Stevanovski, et al.
Nature Communications
|
July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Nature Communications
|
October 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Neuropediatrics
|
June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies
Mridul Johari, Chiara Folland, Yoshihiko Saito, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses
Rocio Rius, Alison G Compton, Naomi L Baker, et al.
Brain : a Journal of Neurology
|
February 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies
Mridul Johari, Chiara Folland, Yoshihiko Saito, et al.
JAMA
|
June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
, Sebastian Lunke, Stefanie Eggers, et al.
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of 11
Search research articles
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Showing results (91-100 of 105) with videos related to
Sort By:
Page
of 11
Medrxiv : the Preprint Server for Health Sciences
|
July 23, 2024
Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies
Bethany Y Norton, James Liu, Sara A Lewis, et al.
American Journal of Human Genetics
|
February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
Nature Communications
|
July 4, 2026
Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies
Dennis Yeow, Andre L M Reis, Igor Stevanovski, et al.
Nature Communications
|
July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Nature Communications
|
October 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Neuropediatrics
|
June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies
Mridul Johari, Chiara Folland, Yoshihiko Saito, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses
Rocio Rius, Alison G Compton, Naomi L Baker, et al.
Brain : a Journal of Neurology
|
February 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies
Mridul Johari, Chiara Folland, Yoshihiko Saito, et al.
JAMA
|
June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
, Sebastian Lunke, Stefanie Eggers, et al.
Page
of 11