Exome sequencing combined with RNA sequencing clarifies the mode of inheritance of MYH3-associated spondylocarpotarsal syndrome: a case report

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Exome sequencing combined with RNA sequencing clarifies the mode of inheritance of MYH3-associated spondylocarpotarsal syndrome: a case report

Volk, Marija, dr. med. ...

Source: EJHG. European journal of human genetics. - ISSN 1018-4813 (Vol. 30, suppl. 1, 2022, str. 170-171)

Type of material - conference contribution

Publish date - 2022

Language - english

COBISS.SI-ID - 106657539

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Topics
RNA sekvenciranje | sekvenciranje exomov | medicinska genetika | skolioza | displazija skeleta

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source: EJHG. European journal of human genetics. - ISSN 1018-4813 (Vol. 30, suppl. 1, 2022, str. 170-171)

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Year	Impact factor		Edition		Category		Classification
Year	JCR	SNIP	JCR	SNIP	JCR	SNIP	JCR	SNIP

Links to authors' personal bibliographies	Links to information on researchers in the SICRIS system
Volk, Marija, dr. med.	26331
Writzl, Karin	20257
Jus, Matevž, biolog
Maver, Aleš, 1984-	34579
Jaklič, Helena, 1977-	26061
Peterlin, Borut, 1963-	10458

Source: Personal bibliographies and: SICRIS

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