Skip to main content

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.

Advertisement

Nature
  • Search
  • My Account Login
  1. nature
  2. search
advanced

Refine your results by…

Filters ​

Filter By:

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

Choose more journals

Subject Check one or more subjects to show results from those subjects only.
Date ​
Choose a date option to show results from those dates only.

Custom date range

Sort by Relevance ​​
Choose a way to sort results.
Loading Filters

Showing 1–1 of 1 results

Loading Filters
  1. Research | 18 December 2017

    CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

    • frederic.bilan@univ-poitiers.fr
    • Marine Legendre
    • , Montserrat Rodriguez - Ballesteros
    • , Massimiliano Rossi
    • , Véronique Abadie
    • , Jeanne Amiel
    • , Nicole Revencu
    • , Patricia Blanchet
    • , Frédéric Brioude
    • , Marie-Ange Delrue
    • , Yassamine Doubaj
    • , Abdelaziz Sefiani
    • , Christine Francannet
    • , Muriel Holder-Espinasse
    • , Pierre-Simon Jouk
    • , Sophie Julia
    • , Judith Melki
    • , Sébastien Mur
    • , Sophie Naudion
    • , Jennifer Fabre-Teste
    • , Tiffany Busa
    • , Stephen Stamm
    • , Stanislas Lyonnet
    • , Tania Attie-Bitach
    • , Alain Kitzis
    • , Brigitte Gilbert-Dussardier
    •  & Frédéric Bilan
    European Journal of Human Genetics 26 , 287–292
    Rights & permissionsfor article CHARGE syndrome: a recurrent hotspot of mutations in <i>CHD7</i> IVS25 analyzed by bioinformatic tools and minigene assays . Opens in a new window.

Search

Advanced search

Quick links

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

nature.com sitemap

Nature portfolio
  • About us
  • Press releases
  • Press office
  • Contact us

Discover content

  • Journals A-Z
  • Articles by subject
  • Nano
  • Protocol Exchange
  • Nature Index

Publishing policies

  • Nature portfolio policies
  • Open access

Author & Researcher services

  • Reprints & permissions
  • Research data
  • Language editing
  • Scientific editing
  • Nature Masterclasses
  • Nature Research Academies

Libraries & institutions

  • Librarian service & tools
  • Librarian portal
  • Open research
  • Recommend to library

Advertising & partnerships

  • Advertising
  • Partnerships & Services
  • Media kits
  • Branded content

Career development

  • Nature Careers
  • Nature Conferences
  • Nature events

Regional websites

  • Nature China
  • Nature India
  • Nature Japan
  • Nature Korea
  • Nature Middle East

Legal & Privacy

  • Privacy Policy
  • Use of cookies
  • Manage cookies/Do not sell my data
  • Legal notice
  • Accessibility statement
  • Terms & Conditions
  • California Privacy Statement
Springer Nature

© 2021 Springer Nature Limited