Loreta Cimbalistiene

Santariskiu St. 4
Vilnius, VL 08406, Lithuania

Last Updated: 09/26/2026

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Found 20 publications

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Journal: Cell

Published: June 13, 2024

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Journal: Cell

Published: July 12, 2023

Diagnostic Significance of FNAB miRNA Expression in Papillary Thyroid Carcinoma.

Diagnostic Significance of FNAB miRNA Expression in Papillary Thyroid Carcinoma.

Journal: Diagnostics (Basel, Switzerland)

Published: May 25, 2022

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.

Journal: Medicina (Kaunas, Lithuania)

Published: January 26, 2022

Dysregulation of microRNAs as the risk factor of lymph node metastasis in papillary thyroid carcinoma: systematic review.

Dysregulation of microRNAs as the risk factor of lymph node metastasis in papillary thyroid carcinoma: systematic review.

Journal: Endokrynologia Polska

Published: November 29, 2020

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Journal: American journal of human genetics

Published: October 19, 2020

A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.

A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.

Journal: BMC endocrine disorders

Published: May 08, 2020

Acute Pre-B Lymphoblastic Leukemia and Congenital Anomalies in a Child with a de Novo 22q11.1q11.22 Duplication.

Acute Pre-B Lymphoblastic Leukemia and Congenital Anomalies in a Child with a de Novo 22q11.1q11.22 Duplication.

Journal: Balkan journal of medical genetics : BJMG

Published: November 15, 2018

X-linked juvenile retinoschisis: phenotypic and genetic characterization.

X-linked juvenile retinoschisis: phenotypic and genetic characterization.

Journal: International journal of ophthalmology

Published: February 05, 2018

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Journal: American journal of human genetics

Published: December 02, 2016

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.

Journal: Acta medica Lituanic

Published: January 01, 2016

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Journal: BMC musculoskeletal disorders

Published: October 21, 2015

Showing 1-12 of 20

Last Updated: 09/26/2026