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

Deborah Morrogh

Showing results (1-10 of 20) with videos related to

Pageof 2
Sort By:
Journal of Clinical Medicine|August 4, 2015
Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?Evangelia Karampetsou, Deborah Morrogh, Lyn Chitty
Archives of Disease in Childhood. Education and Practice Edition|June 1, 2013
What is array CGH?Shereen Tadros, Deborah Morrogh, Richard H Scott
Prenatal Diagnosis|November 19, 2013
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridizationEvangelia Karampetsou, Deborah Morrogh, Terry Ballard, et al.
Acta Neuropathologica|December 10, 2016
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanomaVeronica A Kinsler, Satyamanaasa Polubothu, J Eduardo Calonje, et al.
Molecular Syndromology|February 20, 2018
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant EpilepsyAntonietta Coppola, Deborah Morrogh, Fiona Farrell, et al.
Pediatric Nephrology (Berlin, Germany)|May 21, 2011
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndromeJoanna Kenny, Melissa M Lees, Susan Drury, et al.
Acta Neuropathologica Communications|April 25, 2014
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic testAlexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, et al.
Journal of Medical Genetics|March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysisNatalie Trump, Amy McTague, Helen Brittain, et al.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Journal of Clinical Medicine|August 4, 2015
Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?Evangelia Karampetsou, Deborah Morrogh, Lyn Chitty
Archives of Disease in Childhood. Education and Practice Edition|June 1, 2013
What is array CGH?Shereen Tadros, Deborah Morrogh, Richard H Scott
Prenatal Diagnosis|November 19, 2013
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridizationEvangelia Karampetsou, Deborah Morrogh, Terry Ballard, et al.
Acta Neuropathologica|December 10, 2016
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanomaVeronica A Kinsler, Satyamanaasa Polubothu, J Eduardo Calonje, et al.
Molecular Syndromology|February 20, 2018
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant EpilepsyAntonietta Coppola, Deborah Morrogh, Fiona Farrell, et al.
Pediatric Nephrology (Berlin, Germany)|May 21, 2011
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndromeJoanna Kenny, Melissa M Lees, Susan Drury, et al.
Acta Neuropathologica Communications|April 25, 2014
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic testAlexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, et al.
Journal of Medical Genetics|March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysisNatalie Trump, Amy McTague, Helen Brittain, et al.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.
Pageof 2