Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Cheryl Longman

Showing results (11-20 of 57) with videos related to

Pageof 6
Sort By:
Clinical Dysmorphology|December 1, 2007
Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorderCheryl Longman, James MacKenzie, Rosslyn Rankin, et al.
Journal of Neuromuscular Diseases|December 18, 2023
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease SeverityCharlie Saunders, Cheryl Longman, Grainne Gorman, et al.
Human Molecular Genetics|January 22, 2005
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophyMartin Brockington, Silvia Torelli, Paola Prandini, et al.
American Journal of Medical Genetics. Part A|November 1, 2022
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5Agata Oliwa, Glenda Hendson, Cheryl Longman, et al.
Clinical Dysmorphology|December 24, 2010
Cleft lip and palate with associated digital and cardiac anomalies: a new dominant orofacial clefting syndrome?Catherine A McWilliam, Mark F Devlin, Shelagh K Joss, et al.
Clinical Genetics|March 21, 2012
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?Ruth McGowan, Benjamin R Challoner, Sarah Ross, et al.
Archives of Neurology|August 18, 2004
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain diseaseCheryl Longman, Eugenio Mercuri, Frances Cowan, et al.
Nucleic Acids Research|November 25, 2004
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arraysGabrielle S Sellick, Cheryl Longman, John Tolmie, et al.
Neuromuscular Disorders : NMD|February 6, 2021
A DM1 patient with CCG variant repeats: Reaching the diagnosisSarah A Cumming, Agata Oliwa, Gillian Stevens, et al.
Journal of Neuromuscular Diseases|September 4, 2022
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotypeAgata Oliwa, Shuko Joseph, Eoghan Millar, et al.
Pageof 6

Showing results (11-20 of 57) with videos related to

Sort By:
Pageof 6
Clinical Dysmorphology|December 1, 2007
Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorderCheryl Longman, James MacKenzie, Rosslyn Rankin, et al.
Journal of Neuromuscular Diseases|December 18, 2023
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease SeverityCharlie Saunders, Cheryl Longman, Grainne Gorman, et al.
Human Molecular Genetics|January 22, 2005
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophyMartin Brockington, Silvia Torelli, Paola Prandini, et al.
American Journal of Medical Genetics. Part A|November 1, 2022
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5Agata Oliwa, Glenda Hendson, Cheryl Longman, et al.
Clinical Dysmorphology|December 24, 2010
Cleft lip and palate with associated digital and cardiac anomalies: a new dominant orofacial clefting syndrome?Catherine A McWilliam, Mark F Devlin, Shelagh K Joss, et al.
Clinical Genetics|March 21, 2012
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?Ruth McGowan, Benjamin R Challoner, Sarah Ross, et al.
Archives of Neurology|August 18, 2004
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain diseaseCheryl Longman, Eugenio Mercuri, Frances Cowan, et al.
Nucleic Acids Research|November 25, 2004
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arraysGabrielle S Sellick, Cheryl Longman, John Tolmie, et al.
Neuromuscular Disorders : NMD|February 6, 2021
A DM1 patient with CCG variant repeats: Reaching the diagnosisSarah A Cumming, Agata Oliwa, Gillian Stevens, et al.
Journal of Neuromuscular Diseases|September 4, 2022
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotypeAgata Oliwa, Shuko Joseph, Eoghan Millar, et al.
Pageof 6