Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

View all journals
Search
Log in

nature
search

Search

Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Journal of Human Genetics (1)
Nature (1)

Choose more journals

Article type Check one or more article types to show results from those article types only.

Research (2)

Subject Check one or more subjects to show results from those subjects only.

Developmental biology
Diseases
Genetics
Neuroscience

Date Choose a date option to show results from those dates only.

Today
Last 7 days
Last 30 days
Last 12 months
Last 2 years
Last 5 years

Custom date range

Clear all filters

Sort by:

Relevance

Date published (new to old)

Date published (old to new)

Showing 1–2 of 2 results

Advanced filters: Author: Cengiz Yalcinkaya Clear advanced filters

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly

Cellular, transcriptomic and proteomic analyses of organoids derived from human induced pluripotent stem cells show that mTOR pathway hypoactivation is involved in two genetically distinct lissencephaly spectrum disorders.

Ce Zhang
Dan Liang
Kaya Bilguvar
ResearchOpen Access01 Jan 2025
Nature

Volume: 638, P: 172-181
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome

Ahmet Okay Caglayan
Beyhan Tuysuz
Murat Gunel
Research25 Mar 2022
Journal of Human Genetics

Volume: 67, P: 553-556

Search

Search articles by subject, keyword or author

Show results from

Advanced search

Quick links

Explore articles by subject
Find a job
Guide to authors
Editorial policies

Nature.com

nature.com sitemap

About Nature Portfolio

About us
Press releases
Press office
Contact us

Discover content

Journals A-Z
Articles by subject
protocols.io
Nature Index

Publishing policies

Nature portfolio policies
Open access

Author & Researcher services

Reprints & permissions
Research data
Language editing
Scientific editing
Nature Masterclasses
Research Solutions

Libraries & institutions

Librarian service & tools
Librarian portal
Open research
Recommend to library

Advertising & partnerships

Advertising
Partnerships & Services
Media kits
Branded content

Professional development

Nature Awards
Nature Careers
Nature Conferences

Regional websites

Nature Africa
Nature China
Nature India
Nature Japan
Nature Middle East

Privacy Policy
Use of cookies
Legal notice
Accessibility statement
Terms & Conditions
Your US state privacy rights

Search

Filter By:

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome

Search

Quick links