Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Maha Alotaibi

2PUBLICATIONS

5CO-AUTHORS

Paediatrics not elsewhere classifiedMedical molecular engineering of nucleic acids and proteins

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (2)

Sort by Publication Date:

|Nov 04, 2022

Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient.

Maha Alotaibi, Ali Aldossari, Imran Khan

|Dec 23, 2020

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.

Lia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi

Pageof 1

Frequent Collaborators

1 joint publications

Ana Westenberger

1 joint publications

Malak Ali Alghamdi

1 joint publications

Christian Beetz

1 joint publications

Aida M Bertoli-Avella

1 joint publications

Peter Bauer

Frequent Collaborators

1 joint publications

Ana Westenberger

1 joint publications

Malak Ali Alghamdi

1 joint publications

Christian Beetz

1 joint publications

Aida M Bertoli-Avella

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

See more related videos

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

See more related videos