Jurate Kasnauskiene

Vilnius, VL, Lithuania

Last Updated: 09/26/2026

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Found 11 publications

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Journal: American journal of medical genetics. Part A

Published: January 07, 2015

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.

Journal: Clinical dysmorphology

Published: October 12, 2014

Considering specific clinical features as evidence of pathogenic copy number variants.

Considering specific clinical features as evidence of pathogenic copy number variants.

Journal: Journal of applied genetics

Published: November 17, 2013

Relevance of nasal potential difference in diagnosis of cystic fibrosis among children.

Relevance of nasal potential difference in diagnosis of cystic fibrosis among children.

Journal: Medicina (Kaunas, Lithuania)

Published: August 30, 2013

Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.

Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.

Journal: Journal of child neurology

Published: January 24, 2013

Two new de novo interstitial duplications covering 2p14-p22.1: clinical and molecular analysis.

Two new de novo interstitial duplications covering 2p14-p22.1: clinical and molecular analysis.

Journal: Cytogenetic and genome research

Published: July 09, 2012

A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.

A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.

Journal: American journal of medical genetics. Part A

Published: January 03, 2012

Clinical and molecular characterization of a second case of 7p22.1 microduplication.

Clinical and molecular characterization of a second case of 7p22.1 microduplication.

Journal: American journal of medical genetics. Part A

Published: November 29, 2011

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

Journal: European journal of medical genetics

Published: October 31, 2011

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.

Journal: American journal of medical genetics. Part A

Published: October 15, 2011

A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?

A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?

Journal: European journal of medical genetics

Published: July 25, 2011

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Last Updated: 09/26/2026