نتائج البحث

Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21

• Authors : Paripović A; Maver A; Stajić N

Subjects: mitochondrial disease; tubulopathy; tars2 gene

• Source: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 59-64 (2024)

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A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome

• Authors : Casian Mihnea; Dragotoiu Nic; Onciul Sebastian

Subjects: melas; mitochondrial disease; hereditary cardiomyopathy

• Source: Romanian Journal of Cardiology, Vol 33, Iss 3, Pp 118-122 (2023)

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Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study

• Authors : Rogac M; Neubauer D; Leonardis L

Subjects: exome-sequencing; magnetic resonance imaging (mri); mitochondrial disease (md)

• Source: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 5-14 (2022)

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Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

• Authors : Danis Daniel; Brennerova Katarina; Skopkova Martina

Subjects: leigh syndrome; mitochondrial disease; surf1

• Source: Endocrine Regulations, Vol 52, Iss 2, Pp 110-118 (2018)

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Two Brothers from Macedonia with Gitelman Syndrome.

• Authors : Janchevska, A¹ (AUTHOR) ; Tasic, V¹ (AUTHOR); Jordanova, O¹ (AUTHOR)

• Source: Balkan Journal of Medical Genetics. 2023, Vol. 26 Issue 1, p69-74. 6p.

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ROLUL TERAPIEI ANTIOXIDANTE ÎN STEATOHEPATITA NON-ALCOOLICĂ.

• Authors : Călin-Necula, Ana¹; Moldoveanu, Alexandru¹; Peagu, Răzvan¹

• Source: Internal Medicine / Medicină Internă. 2017, Vol. 14 Issue 3, p15-23. 9p. 1 Chart, 2 Graphs.

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Advances in biotechnology: Genomics and genome editing

• Authors : Gartland Kevan M.A.; Dundar Munis; Beccari Tommaso

Subjects: Biotechnology; TP248.13-248.65

• Source: The EuroBiotech Journal, Vol 1, Iss 1, Pp 2-9 (2017)

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