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

Emily Cottrell

6PUBLICATIONS
43CO-AUTHORS
Genetic immunologyMolecular targetsGenomics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

Sort by Publication Date:
|Mar 21, 2023
Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.

Afiya Andrews, Emily Cottrell, Avinaash Maharaj

|Aug 28, 2021
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.

Emily Cottrell, Avinaash Maharaj, Jack Williams

|Aug 13, 2021
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.

Junhua Zhou, Elena A B Azizan, Claudia P Cabrera

|Jul 28, 2021
Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).

Emily Cottrell, Avinaash Maharaj, Jack Williams

|Jun 17, 2021
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Afiya Andrews, Avinaash Maharaj, Emily Cottrell

|Sep 30, 2020
The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome.

E Cottrell, T Ladha, H Borysewicz-Sańczyk

Pageof 1

Frequent Collaborators

6 joint publications

Helen L Storr

4 joint publications

Martin O Savage

4 joint publications

Louise A Metherell

4 joint publications

Avinaash Maharaj

3 joint publications

Katharina Schilbach

3 joint publications

Jack Williams

2 joint publications

Tasneem Ladha

2 joint publications

Adalgisa Festa

2 joint publications

Afiya Andrews

2 joint publications

Sumana Chatterjee

Frequent Collaborators

6 joint publications

Helen L Storr

4 joint publications

Martin O Savage

4 joint publications

Louise A Metherell

4 joint publications

Avinaash Maharaj

Top Related Videos

Inducible and Reversible Dominant-negative (DN) Protein Inhibition
08:35

Inducible and Reversible Dominant-negative (DN) Protein Inhibition

Published on : Jan 07, 2019

8.4K
Comparative Analysis of Human Growth Hormone in Serum Using SPRi, Nano-SPRi and ELISA Assays
11:17

Comparative Analysis of Human Growth Hormone in Serum Using SPRi, Nano-SPRi and ELISA Assays

Published on : Jan 07, 2016

16.8K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on : Feb 03, 2012

38.8K
See more related videos

Top Related Videos

Inducible and Reversible Dominant-negative (DN) Protein Inhibition
08:35

Inducible and Reversible Dominant-negative (DN) Protein Inhibition

Published on : Jan 07, 2019

8.4K
Comparative Analysis of Human Growth Hormone in Serum Using SPRi, Nano-SPRi and ELISA Assays
11:17

Comparative Analysis of Human Growth Hormone in Serum Using SPRi, Nano-SPRi and ELISA Assays

Published on : Jan 07, 2016

16.8K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on : Feb 03, 2012

38.8K
See more related videos