Ausra Morkuniene
Vilnius, VL 01513, Lithuania
Last Updated: 09/26/2026
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Found 13 publications
A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects.
Journal: Medicina (Kaunas, Lithuania)
Published: April 02, 2023
Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12.
Journal: Brain & development
Published: July 25, 2022
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Journal: Orphanet journal of rare diseases
Published: May 20, 2022
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.
Journal: BMC musculoskeletal disorders
Published: May 07, 2021
Significant Association Between Huntingtin Gene Mutation and Prevalence of Hopelessness, Depression and Anxiety Symptoms.
Journal: Acta medica Lituanic
Published: September 18, 2020
Juvenile Huntington's disease: two case reports and a review of the literature.
Journal: Journal of medical case reports
Published: May 08, 2020
A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.
Journal: Cytogenetic and genome research
Published: November 11, 2017
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome.
Journal: Balkan journal of medical genetics : BJMG
Published: March 15, 2017
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.
Journal: Ophthalmic genetics
Published: November 24, 2016
Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.
Journal: Clinical dysmorphology
Published: September 18, 2015
Last Updated: 09/26/2026