Publications by authors named "B Burnyte"

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Birute Burnyte

Brain· November 2025

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Spectrum of genetic variants detected in children tested for long QT syndrome.
Aurelija Kemezyte, Raimonda Meskiene, Algirdas Utkus, Birute Burnyte

BMC Cardiovasc Disord· September 2025

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Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.
Urte Aliosaitiene, Rimante Cerkauskiene, Aleksandras Laucevicius, Migle Vilniskyte, Viktoras Sutkus, Birute Burnyte

J Cardiovasc Dev Dis· May 2025

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Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel Variant in a Lithuanian Family.
Domantas Valančius, Birutė Burnytė, Raminta Masaitienė, Aušra Morkūnienė, Aušra Klimašauskienė

Neurol Genet· December 2024

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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Deborah J G Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani

Clin Epigenetics· August 2024

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