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

Sally Ann Lynch

Showing results (11-20 of 114) with videos related to

Pageof 12
Sort By:
Pediatric Dermatology|March 16, 2017
FOXN1 Duplication and Congenital HypertrichosisEimear Gilhooley, Siobhan Gormally, Alan Irvine, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300Patricia Foley, David Bunyan, John Stratton, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|June 26, 2024
'Werner Syndrome foot'-A case series of four Irish Traveller siblings with Werner Syndrome, diabetes mellitus and complex foot diseaseAisling McGrath, Michael Lockhart, Tomas Griffin, et al.
Neuromuscular Disorders : NMD|January 15, 2020
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotypeNiamh Shaughnessy, Eva B Forman, Declan O'Rourke, et al.
Journal of Community Genetics|July 3, 2021
Fatal fetal abnormality Irish live-born survival-an observational studyEmer Gunne, Sally Ann Lynch, Cliona McGarvey, et al.
Prenatal Diagnosis|September 13, 2016
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencingJillian Casey, Karen Flood, Sean Ennis, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 11, 2020
Integration of genetic and histopathology data in interpretation of kidney diseaseSusan L Murray, Neil K Fennelly, Brendan Doyle, et al.
Orphanet Journal of Rare Diseases|November 5, 2020
A retrospective review of the contribution of rare diseases to paediatric mortality in IrelandEmer Gunne, Cliona McGarvey, Karina Hamilton, et al.
American Journal of Medical Genetics. Part A|May 15, 2008
Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletionJacqueline McBrien, John Anthony Crolla, Shuwen Huang, et al.
Journal of Genetic Counseling|January 7, 2011
Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinicsRosie O'Shea, Anne Marie Murphy, Eileen Treacy, et al.
Pageof 12

Showing results (11-20 of 114) with videos related to

Sort By:
Pageof 12
Pediatric Dermatology|March 16, 2017
FOXN1 Duplication and Congenital HypertrichosisEimear Gilhooley, Siobhan Gormally, Alan Irvine, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300Patricia Foley, David Bunyan, John Stratton, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|June 26, 2024
'Werner Syndrome foot'-A case series of four Irish Traveller siblings with Werner Syndrome, diabetes mellitus and complex foot diseaseAisling McGrath, Michael Lockhart, Tomas Griffin, et al.
Neuromuscular Disorders : NMD|January 15, 2020
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotypeNiamh Shaughnessy, Eva B Forman, Declan O'Rourke, et al.
Journal of Community Genetics|July 3, 2021
Fatal fetal abnormality Irish live-born survival-an observational studyEmer Gunne, Sally Ann Lynch, Cliona McGarvey, et al.
Prenatal Diagnosis|September 13, 2016
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencingJillian Casey, Karen Flood, Sean Ennis, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 11, 2020
Integration of genetic and histopathology data in interpretation of kidney diseaseSusan L Murray, Neil K Fennelly, Brendan Doyle, et al.
Orphanet Journal of Rare Diseases|November 5, 2020
A retrospective review of the contribution of rare diseases to paediatric mortality in IrelandEmer Gunne, Cliona McGarvey, Karina Hamilton, et al.
American Journal of Medical Genetics. Part A|May 15, 2008
Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletionJacqueline McBrien, John Anthony Crolla, Shuwen Huang, et al.
Journal of Genetic Counseling|January 7, 2011
Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinicsRosie O'Shea, Anne Marie Murphy, Eileen Treacy, et al.
Pageof 12