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Journal of Genetic Counseling
|
August 14, 2019
Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results
Brooke M Nightingale, Shelly R Hovick, Pamela Brock, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
June 21, 2024
Response to "assessment of risk of ALS conferred by the GGGGCC hexanucleotide expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion"
Laynie Dratch, Daniel D Kinnamon, Elizabeth A Harrington, et al.
Journal of Medical Genetics
|
December 5, 2023
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
Alayne P Meyer, Cara L Barnett, Katherine Myers, et al.
Neurology. Genetics
|
August 13, 2021
Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic
Jennifer Roggenbuck, Kelly A Rich, Leah Vicini, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
July 4, 2026
Reduced penetrance in genetic ALS/FTD spectrum disorders: implications for genetic counseling, predictive testing and treatment
Elizabeth A Harrington, Laynie Dratch, Tara A Jones, et al.
Human Molecular Genetics
|
September 15, 2024
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease
Jochen Gohlke, Johan Lindqvist, Zaynab Hourani, et al.
Molecular Genetics & Genomic Medicine
|
September 7, 2019
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy
Jennifer Roggenbuck, Kelly Rich, Ana Morales, et al.
Muscle & Nerve
|
November 23, 2016
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family
Stanley Iyadurai, W David Arnold, John T Kissel, et al.
Journal of the Peripheral Nervous System : JPNS
|
August 14, 2024
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy
Jennifer Roggenbuck, Ana Morales, Colin A Ellis, et al.
European Journal of Human Genetics : EJHG
|
April 5, 2022
Predictive genetic testing for Motor neuron disease: time for a guideline?
Alisdair McNeill, Maria-Del-Mar Amador, Hilary Bekker, et al.
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of 4
Search research articles
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Showing results (21-30 of 34) with videos related to
Sort By:
Page
of 4
Journal of Genetic Counseling
|
August 14, 2019
Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results
Brooke M Nightingale, Shelly R Hovick, Pamela Brock, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
June 21, 2024
Response to "assessment of risk of ALS conferred by the GGGGCC hexanucleotide expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion"
Laynie Dratch, Daniel D Kinnamon, Elizabeth A Harrington, et al.
Journal of Medical Genetics
|
December 5, 2023
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
Alayne P Meyer, Cara L Barnett, Katherine Myers, et al.
Neurology. Genetics
|
August 13, 2021
Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic
Jennifer Roggenbuck, Kelly A Rich, Leah Vicini, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
July 4, 2026
Reduced penetrance in genetic ALS/FTD spectrum disorders: implications for genetic counseling, predictive testing and treatment
Elizabeth A Harrington, Laynie Dratch, Tara A Jones, et al.
Human Molecular Genetics
|
September 15, 2024
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease
Jochen Gohlke, Johan Lindqvist, Zaynab Hourani, et al.
Molecular Genetics & Genomic Medicine
|
September 7, 2019
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy
Jennifer Roggenbuck, Kelly Rich, Ana Morales, et al.
Muscle & Nerve
|
November 23, 2016
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family
Stanley Iyadurai, W David Arnold, John T Kissel, et al.
Journal of the Peripheral Nervous System : JPNS
|
August 14, 2024
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy
Jennifer Roggenbuck, Ana Morales, Colin A Ellis, et al.
European Journal of Human Genetics : EJHG
|
April 5, 2022
Predictive genetic testing for Motor neuron disease: time for a guideline?
Alisdair McNeill, Maria-Del-Mar Amador, Hilary Bekker, et al.
Page
of 4