Partial deletion of TCF4 in three generation family with nonsyndromic intellectual disability, without features of Pitt-Hopkins syndrome
author
Kharbanda, Mira
Kannike, Kaja
Lampe, Anne
Berg, Jonathan
Timmusk, Tõnis
Sepp, Mari
statement of authorship
Mira Kharbanda, Kaja Kannike, Anne Lampe, Jonathan Berg, Tõnis Timmusk, Mari Sepp
source
European journal of medical genetics
publisher
Elsevier
journal volume number month
vol. 59, 6-7
year of publication
2016
pages
p. 310-314 : ill
url
https://doi.org/10.1016/j.ejmg.2016.04.003
subject term
autism
mutatsioonid
närvihaigused
keyword
TCF4
non-syndromic intellectual disability
Pitt-Hopkins syndrome
alternative transcription
ISSN
1769-7212
notes
Bibliogr. p. 314
scientific publication
teaduspublikatsioon
classifier
1.1
Scopus
https://www.scopus.com/sourceid/130005
https://www.scopus.com/record/display.uri?eid=2-s2.0-84965107362&origin=inward&txGid=a51098827b195e12d6d60362875869a5
WOS
https://jcr.clarivate.com/jcr-jp/journal-profile?journal=EUR%20J%20MED%20GENET&year=2016
https://www.webofscience.com/wos/woscc/full-record/WOS:000377414700002
category (general)
Medicine
Meditsiin
Biochemistry, genetics and molecular biology
Biokeemia, geneetika ja molekulaarbioloogia
category (sub)
Medicine. Genetics (clinical)
Meditsiin. Geneetika (kliiniline)
Biochemistry, genetics and molecular biology. Genetics
Biokeemia, geneetika ja molekulaarbioloogia. Geneetika
quartile
Q2
TalTech department
geenitehnoloogia instituut
language
inglise