Exome-based bottom-up approach of molecular diagnostics in a clinically ambiguous family with a polystigmatized patient revealed ultra-rare NEDD4L associated periventricular nodular heterotopia

Number of the records: 1

Title	Exome-based bottom-up approach of molecular diagnostics in a clinically ambiguous family with a polystigmatized patient revealed ultra-rare NEDD4L associated periventricular nodular heterotopia
Author	Pecimonova Martina
Co-authors	Smoľak D.
	Budiš J.
	Lichvár M.
	Turňa Ján
	Radvánszky Ján 1982- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV
	Szemes Tomáš

Source document	European Journal of Human Genetics. Vol. 27, suppl. 2 (2019), p. 1453-1454
Language	eng - English
Document kind	rozpis článkov z periodík (rzb)
Category	AEMA - Abstracts of scientific papers published in foreign impacted journals registered in Web of Science Core Collection or Scopus
Category of document (from 2022)	V3 - Vedecký výstup publikačnej činnosti z časopisu
Type of document	abstrakt
Year	2019
Registered in	WOS

article

rok	CC	IF	IF Q (best)	JCR Av Jour IF Perc	SJR	SJR Q (best)	CiteScore
	N

rok vydania	rok metriky	IF	IF Q (best)	SJR	SJR Q (best)
2019	2018	3.650	Q2	1.835	Q1

Number of the records: 1