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CHOROBA SPICHRZANIA ESTRÓW CHOLESTEROLU - NIEDOCENIANA PRZYCZYNA HIPERCHOLESTEROLEMII U DZIECI.
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- Przeglad Pediatryczny, 2011, v. 41, n. 3, p. 117
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- Article
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3625, doi. 10.3390/ijms22073625
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- Article
Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders.
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- Journal of Obstetrics & Gynaecology Research, 2017, v. 43, n. 7, p. 1111, doi. 10.1111/jog.13344
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- Article
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.
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- Life (2075-1729), 2022, v. 12, n. 1, p. 3, doi. 10.3390/life12010003
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- Article
Association of adiponectin, leptin and resistin with inflammatory markers and obesity in dementia.
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- Biogerontology, 2017, v. 18, n. 4, p. 561, doi. 10.1007/s10522-017-9701-0
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- Article
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
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- Metabolic Brain Disease, 2018, v. 33, n. 1, p. 191, doi. 10.1007/s11011-017-0122-1
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- Article
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr<sub>3492</sub>Ile in the apolipoprotein B gene.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 836, doi. 10.1038/sj.ejhg.5200720
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- Article
Interaction Between Val158Met Catechol-O-Methyltransferase Polymorphism and Social Cognitive Functioning in Schizophrenia: Pilot Study.
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- Annals of Human Genetics, 2017, v. 81, n. 6, p. 267, doi. 10.1111/ahg.12209
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- Article
Paraoxonase 1 (PON1) gene-108C>T and p.Q192R polymorphisms and arylesterase activity of the enzyme in patients with dementia.
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- Folia Neuropathologica, 2013, v. 51, n. 2, p. 111, doi. 10.5114/fn.2013.35953
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- Article
CAROTID ATHEROSCLEROSIS AND DEMENTIA – INFLAMMATORY MARKERS AND MARKER OF MACROPHAGE ACTIVATION.
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- Postepy Psychiatrii i Neurologii / Advances in Psychiatry & Neurology, 2019, v. 28, n. 3, p. 169, doi. 10.5114/ppn.2019.89127
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- Article
POLYMORPHISMS OF APOLIPOPROTEIN E AND ANGIOTENSIN-CONVERTING ENZYME GENES AND CAROTID ATHEROSCLEROSIS IN HEAVY DRINKERS.
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- Alcohol & Alcoholism, 2005, v. 40, n. 4, p. 274, doi. 10.1093/alcalc/agh157
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- Article
Evaluation of the frequency of RETN c.62G>A and RETN c.-180C>G polymorphisms in the resistin coding gene in girls with anorexia nervosa.
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- Polish Journal of Endocrinology / Endokrynologia Polska, 2021, v. 72, n. 5, p. 529, doi. 10.5603/EP.a2021.0065
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- Article
Evaluation of the frequency of ADIPOQ c.45 T>G and ADIPOQ c.276 G>T polymorphisms in adiponectin coding gene in girls with anorexia nervosa.
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- Polish Journal of Endocrinology / Endokrynologia Polska, 2021, v. 72, n. 5, p. 520, doi. 10.5603/EP.a2021.0064
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- Article
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 320, doi. 10.3390/diagnostics11020320
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- Article
Interaction between polymorphisms of the oxytocinergic system genes and emotion perception in inpatients with anorexia nervosa.
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- European Eating Disorders Review, 2019, v. 27, n. 5, p. 481, doi. 10.1002/erv.2698
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- Article
Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-42584-1
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- Article
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann–Pick C disease.
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- Neurogenetics, 2020, v. 21, n. 2, p. 105, doi. 10.1007/s10048-019-00600-6
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- Article