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Kym M Boycott

Showing results (201-210 of 239) with videos related to

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Nature Communications|November 22, 2018
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromesErfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, et al.
Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.
American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.
Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.
BMJ Open|March 27, 2026
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational studyDaniel Assamad, Abigail Hansen, Katharine Fooks, et al.
American Journal of Human Genetics|August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformationsSadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Genome Medicine|July 2, 2025
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohortJamie C Stark, Neta Pipko, Yijing Liang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual frameworkMichael P Mackley, Julie Richer, Andrea Guerin, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Pageof 24

Showing results (201-210 of 239) with videos related to

Sort By:
Pageof 24
Nature Communications|November 22, 2018
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromesErfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, et al.
Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.
American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.
Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.
BMJ Open|March 27, 2026
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational studyDaniel Assamad, Abigail Hansen, Katharine Fooks, et al.
American Journal of Human Genetics|August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformationsSadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Genome Medicine|July 2, 2025
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohortJamie C Stark, Neta Pipko, Yijing Liang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual frameworkMichael P Mackley, Julie Richer, Andrea Guerin, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Pageof 24