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

Mingfeng Li

2PUBLICATIONS

6CO-AUTHORS

NeurogeneticsGene mapping

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (2)

Sort by Publication Date:

|Feb 10, 2023

A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.

Mingfeng Li, Kenneth Lay, Andreas Zimmer

|Jan 20, 2023

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families.

Mingfeng Li, Judith Fischer, Sylvia Safwat

Pageof 1

Frequent Collaborators

2 joint publications

Cristina Has

1 joint publications

Yasmine El Chazli

1 joint publications

Ebtesam Abdalla

1 joint publications

Andreas Zimmer

1 joint publications

Antonia Reimer-Taschenbrecker

1 joint publications

Bruno Reversade

Frequent Collaborators

2 joint publications

Cristina Has

1 joint publications

Yasmine El Chazli

1 joint publications

Ebtesam Abdalla

1 joint publications

Andreas Zimmer

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

<em>In Vivo</em> Modeling of the Morbid Human Genome using <em>Danio rerio</em>

<em>In Vivo</em> Modeling of the Morbid Human Genome using <em>Danio rerio</em>

Published on : Aug 24, 2013

See more related videos

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

<em>In Vivo</em> Modeling of the Morbid Human Genome using <em>Danio rerio</em>

<em>In Vivo</em> Modeling of the Morbid Human Genome using <em>Danio rerio</em>

Published on : Aug 24, 2013

See more related videos