nature.com search

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

nature
search

Search

advanced

where the list of authors contains where the title contains

Refine your results by…

volume

start page / article no.

Filters

Filter By:

Article type

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

Research (7)

Journal

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

European Journal of Human Genetics (8)

Choose more journals

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

Cytogenetics (1)
Disease genetics (1)
Genetics research (1)
Structural variation (1)

Date

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

Today
Last 7 days
Last 30 days
In the last year
Last 2 years
Last 5 years

Custom date range

Sort by Relevance

Choose a way to sort results.

Relevance
Date — most recent
Date — oldest first

Loading Filters

Showing 1–8 of 8 results

Loading Filters

3 August 2016
Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?
European Journal of Human Genetics 25 , 8–9

Rights & permissionsfor article Copy number variation of the <i>REXO1L1</i> gene cluster; euchromatic deletion variant or susceptibility factor? . Opens in a new window.
Research | 22 March 2006
Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype
European Journal of Human Genetics 14 , 739–743

Rights & permissionsfor article Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype . Opens in a new window.
Research | 20 August 2008
Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties
- Mary Glancy
- , Angela Barnicoat
- , Rajan Vijeratnam
- , Sharon de Souza
- , Joanne Gilmore
- , Shuwen Huang
- , Viv K Maloney
- , N Simon Thomas
- , David J Bunyan
- , Ann Jackson
- & John C K Barber
European Journal of Human Genetics 17 , 37–43

Rights & permissionsfor article Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties . Opens in a new window.
Research | 3 August 2005
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level
- John C K Barber
- , Viv Maloney
- , Edward J Hollox
- , Annegret Stuke-Sontheimer
- , Gabi du Bois
- , Eva Daumiller
- , Ute Klein-Vogler
- , Andreas Dufke
- , John A L Armour
- & Thomas Liehr
European Journal of Human Genetics 13 , 1131–1136

Rights & permissionsfor article Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level . Opens in a new window.
Research | 22 December 2004
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences
- John C K Barber
- , N Simon Thomas
- , Morag N Collinson
- , Nick R Dennis
- , Thomas Liehr
- , Anja Weise
- , Britta Belitz
- , Lutz Pfeiffer
- , Maria Kirchhoff
- , Bente Krag-Olsen
- & Claes Lundsteen
European Journal of Human Genetics 13 , 283–291

Rights & permissionsfor article Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences . Opens in a new window.
Research | 17 October 2007
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH
- John C K Barber
- , Viv K Maloney
- , Shuwen Huang
- , David J Bunyan
- , Lara Cresswell
- , Esther Kinning
- , Anna Benson
- , Tim Cheetham
- , Jonathan Wyllie
- , Sally Ann Lynch
- , Simon Zwolinski
- , Laura Prescott
- , Yanick Crow
- , Rob Morgan
- & Emma Hobson
European Journal of Human Genetics 16 , 18–27

Rights & permissionsfor article 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH . Opens in a new window.
Research | 20 September 2006
Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin
European Journal of Human Genetics 15 , 45–52

Rights & permissionsfor article Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin . Opens in a new window.
Research | 25 July 2012
16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
- John C K Barber
- , Victoria Hall
- , Viv K Maloney
- , Shuwen Huang
- , Angharad M Roberts
- , Angela F Brady
- , Nicki Foulds
- , Beverley Bewes
- , Marianne Volleth
- , Thomas Liehr
- , Karl Mehnert
- , Mark Bateman
- & Helen White
European Journal of Human Genetics 21 , 182–189

Rights & permissionsfor article 16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2 . Opens in a new window.

Advertisement

Search

Article Search

Advanced search

Quick links

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

nature.com sitemap

About us
Press releases
Press office
Contact us

Discover content

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

Publish with us

Guide to Authors
Guide to Referees
Editorial policies
Open access
Reprints & permissions

Researcher services

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

© 2021 Springer Nature Limited