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

Muhammad Umair

28PUBLICATIONS
81CO-AUTHORS
Neurology and neuromuscular diseasesLinguistic structures (incl. phonology, morphology and syntax)Cell and nuclear divisionGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (28)

Sort by Publication Date:
|Jul 30, 2025
NAV3 Missense Variant in a Homozygous State: Strengthening Links to Neurodevelopmental Disorder.

Muhammad Umair, Anwar Ullah, Najumuddin -

|Oct 24, 2024
A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.

Farooq Ahmad, Arif Mahmood, Ibrahim Abdullah Almazni

|Oct 08, 2024
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.

Lamia K Alshamlani, Dana S Alsulaim, Raghad S Alabbad

|Dec 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Ralf A Husain, Xinfu Jiao, J Christopher Hennings

|Jul 29, 2023
Undiagnosed Rare Genetic Disorders: Importance of Functional Characterization of Variants.

Muhammad Umair, Ahmed Waqas

|May 27, 2023
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.

Hamed Nawaz, Mujahid, Sher Alam Khan

Pageof 5

Frequent Collaborators

5 joint publications

Wasim Ahmad

4 joint publications

Majid Alfadhel

4 joint publications

Amjad Khan

3 joint publications

Arif Mahmood

1 joint publications

S Basit

1 joint publications

Azza Thamer Althagafi

1 joint publications

Ahmed Alfares

1 joint publications

Zhichao Miao

1 joint publications

Farooq Ahmad

1 joint publications

Raphael Carapito

Frequent Collaborators

5 joint publications

Wasim Ahmad

4 joint publications

Majid Alfadhel

4 joint publications

Amjad Khan

3 joint publications

Arif Mahmood

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.8K
Isolation and Culture of Primary Cochlear Hair Cells from Neonatal Mice
06:07

Isolation and Culture of Primary Cochlear Hair Cells from Neonatal Mice

Published on : Sep 15, 2023

2.3K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on : Jun 21, 2018

10.1K
See more related videos

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.8K
Isolation and Culture of Primary Cochlear Hair Cells from Neonatal Mice
06:07

Isolation and Culture of Primary Cochlear Hair Cells from Neonatal Mice

Published on : Sep 15, 2023

2.3K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on : Jun 21, 2018

10.1K
See more related videos