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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
DDD Study
Applied Medicine
Grampian Data Safe Haven (DaSH)
Radboud University Nijmegen
University of Montreal
National Institutes of Health (NIH) - USA, NIH National Institute of Environmental Health Sciences (NIEHS)
Boston Childrens Hosp, Boston Children's Hospital, Harvard University, VA Boston Healthcare System, Div Genet & Genom
Harvard Med Sch, Harvard University
Massachusetts General Hospital
Maastricht University Medical Center
Nemours Childrens Clin
Washington University (WUSTL)
Valley Childrens Hosp
University of British Columbia
University of Calgary
Royal Devon & Exeter NHS Fdn Trust Heavitree, Dept Clin Genet
University of Tennessee Health Science Center, University of Tennessee System
Greenwood Genet Ctr, Greenwood Genetic Center
Armand Trousseau Hosp, Assistance Publique Hopitaux Paris (APHP), Sorbonne Universite, Hopital Universitaire Armand-Trousseau - APHP, AP HP, GHUEP, Ctr Reference Malformat & Malad Congenit Cervelet
UPMC, Sorbonne Universite
UPMC Univ Paris 06, CNRS - National Institute for Biology (INSB), Sorbonne Universite, Centre National de la Recherche Scientifique (CNRS), Institut National de la Sante et de la Recherche Medicale (Inserm), Sorbonne Univ, ICM,UMR S 1127, INSERM,U1127,CNRS,UMR 7225,Inst Cerveau & Moelle
Hop La Pitie Salpetriere, Sorbonne Universite, Assistance Publique Hopitaux Paris (APHP), Hopital Universitaire Pitie-Salpetriere - APHP, AP HP, Dept Genet
Armand Trousseau Hosp, Sorbonne Universite, Assistance Publique Hopitaux Paris (APHP), Hopital Universitaire Armand-Trousseau - APHP, AP HP, GHUEP,FILNEMUS, Reference Ctr Neuromuscular Dis Nord Est Ile de F
Armand Trousseau Hosp, Institut National de la Sante et de la Recherche Medicale (Inserm), Hopital Universitaire Armand-Trousseau - APHP, Sorbonne Universite, Assistance Publique Hopitaux Paris (APHP), AP HP, Natl Reference Ctr Neurogenet Disorders, GHUEP,INSERM,U1141
Virginia Commonwealth University
University Medical Center Groningen
Seoul National University
Oxford University Hospitals NHS Foundation Trust
GeneDx
Friedrich-Alexander-University Erlangen-Nuremberg
GRAMPIAN UNIVERSITY HOSPITALS NHS TRUST
Research output
:
Contribution to journal
›
Article
›
peer-review
69
Citations (Scopus)
10
Downloads (Pure)
Overview
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Dive into the research topics of 'CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)'. Together they form a unique fingerprint.
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Medicine & Life Sciences
Megalencephaly
100%
Chromatin Assembly and Disassembly
62%
Language
56%
Adenosine Triphosphatases
53%
Mutation
39%
Speech Disorders
23%
Neurodevelopmental Disorders
20%
Whole Genome Sequencing
20%
Missense Mutation
18%
Protein Domains
17%
Intellectual Disability
16%
Genotype
12%
Phenotype
10%
Brain
8%
Child
7%
Genes
7%
Physics & Astronomy
mutations
82%
chromatin
54%
causes
42%
disorders
21%
disabilities
21%
phenotype
19%
sequencing
19%
genome
18%
genes
16%
set theory
14%
brain
13%
disturbances
12%
proteins
11%
interactions
5%
Chemical Compounds
Mutation
59%
Disorder
24%
Molecular Cluster
9%
Protein
5%
Reaction Yield
5%