Peterlin, Borut, 1963-
Peterlin, Borut
Borut Peterlin
VIAF ID: 305547464 (Personal)
Permalink: http://viaf.org/viaf/305547464
Preferred Forms
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100 0 _
‡a
Borut Peterlin
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100 1 _ ‡a Peterlin, Borut
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100 1 _
‡a
Peterlin, Borut,
‡d
1963-
4xx's: Alternate Name Forms (5)
Works
| Title | Sources |
|---|---|
| Aldose reductase (AC)n gene polymorphism and susceptibility to diabetic retinopathy in Type 2 diabetes in Caucasians. |
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| Analiza mutacij pri spinalni mišični atrofiji : magistrsko delo |
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| Analysis of DAZ gene copy number in patients with oligozoospermia or azoospermia |
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| Analysis of Huntington's disease gene expression profiles using constrained clustering |
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| Benign familial infantile convulsions in three siblings |
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| C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment |
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| Canki Klain, Nina |
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| Celična biologija : učbenik za študente Medicinske fakultete |
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| Chi-square-based scoring function for categorization of MEDLINE citations. |
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| Clinical and genetic heterogeneity in retinitis pigmentosa |
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| Clinical exome sequencing in dementias : a preliminary study |
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| Combining semantic relations and DNA microarray data for novel hypotheses generation |
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| Commercial genetic testing and society |
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| Copy number of DAZ genes in Slovenian and Bosnian general population |
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| Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I) |
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| Deoxyribonucleic acid or DNA |
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| Diagnostic utility of clinical exome sequencing in a cohort of patients with hereditary polyneuropathies |
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| Direct-to-consumer genetic testing in Slovenia : availability, ethical dilemmas and legislation |
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| DNMT3B rs1569686 and rs2424913 gene polymorphisms are associated with positive family history of preterm birth and smoking status |
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| Family history as a predictor for disease risk in healthy individuals: a cross-sectional study in Slovenia |
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| Family physicians' self-perceived importance of providing genetic test information to patients: a cross-sectional study from Slovenia |
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| Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. |
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| Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina |
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| Gene candidates in atherosclerosis |
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| Genetic counselling in practice |
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| Genetic markers of restenosis after coronary angioplasty and after stent implantation |
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| Genetic polymorphisms in vasoactive genes and preeclampsia: a meta-analysis |
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| La genetica in ginecologia |
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| Genetičko testiranje recesivnih monogenskih bolesti : od dijagnostičkog testiranja do suvremenog proširenog genomskog probira nositelja = Genetic testing of recessive gene disorders : from diagnostic testing to the contemporary expanded genomic carrier screening |
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| Genetics of sarcoidosis |
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| Genetika v porodništvu |
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| Genome-wide expression profile as a biomarker in prenatal diagnosis of Down syndrome |
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| Genomic biomarkers for neurodegenerative disorders |
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| GSTM1-null and GSTT1-null genotypes are associated with essential arterial hypertension in patients with type 2 diabetes |
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| Impact of prenatal screening on the prevalence of Down syndrome in Slovenia |
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| Insertion/deletion polymorphism in intron 16 of ACE gene in idiopathic recurrent spontaneous abortion: case-control study, systematic review and meta-analysis. |
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| Integration of data from omic studies with the literature-based discovery towards identification of novel treatments for neovascularization in diabetic retinopathy |
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| The interleukin-1 receptor antagonist gene and the inhibitor of kappa B-like protein gene polymorphisms are not associated with myocardial infarction in Slovene population with type 2 diabetes |
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| The lack of association between angiotensin-converting enzyme gene insertion/deletion polymorphism and nicotine dependence in multiple sclerosis. |
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| Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients |
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| Literature based discovery support system and its application to disease gene identification |
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| Medicinska genetika v Sloveniji |
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| Molecular analysis in diagnostic procedure of hearing impairment in newborns |
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| Molecular genetic analysis of Huntington chorea in Slovenia |
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| Molecular karyotyping : a new approach in clinical and laboratory genetics |
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| Molekularna kariotipizacija : nov pristup u kliničkoj i laboratorijskoj genetici |
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| Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome |
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| Mutations in the hemochromatosis gene (HFE) and multiple sclerosis |
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| Neurodegenerative diseases challenges : early diagnosis and pandemics |
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| Normal (CTG)n repeat expansion in a family with a clinical picture of myotonic dystrophy |
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| De novo NEMO gene deletion ([delta]4-10) - a cause of incontinentia pigmenti in a female infant : a case report |
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| Oštećenje sluha : neonatalni probir i connexin 26 mutacije |
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| Patients with primary cataract as a genetic pool of DMPK protomutation |
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| Phenotype variability in Charcot-Marie-tooth disease (CMT) type 1A |
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| Polymorphisms in the clock and bmal-1 genes as risk factors for recurrent spontaneous abortions |
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| Polymorphisms of dopamine receptors in patients with retinitis pigmentosa |
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| Predimplantacijska genetska diagnostika |
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| Pregnancies and children after intracytoplasmic sperm injection attempt at the Department of obstretics and gynecology in Ljubljana |
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| Prenatal diagnosed tricho-rhino-phalangeal syndrome : a case report |
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| Primjena DNA testa u dijagnostici Huntingtonove bolesti = The DNA test in the diagnosis of Huntington disease |
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| Priručnik s prikazima slučajeva iz Medicinske genetike : za studente pete godine integriranog preddiplomskog i diplomskog sveučilišnog studija Medicina |
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| [Prisotnost depresije in njene povezave v slovenski delovni populaciji] |
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| Recent advances in the diagnosis of myotonic dystrophy |
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| Reply to Sajantila and Budowle |
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| The role of microRNAs in heart failure |
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| Search for sarcoidosis candidate genes by integration of data from genomic, transcriptomic and proteomic studies. |
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| Sharing is caring-the significance of data sharing in the era of genomics |
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| Slovenski raziskovalci Kliničnega inštituta za medicinsko genetiko prvi na svetu odkrili nov gen za sindrom prezgodnjega staranja |
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| Study of three single nucleotide polymorphisms in the SLC6A14 gene in association with male infertility |
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| Subclavian/axillary artery aneurysms in two relatives-a novel mutation in filamin A gene |
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| Telegenetics |
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| Towards a European consensus for reporting incidental findings during clinical NGS testing |
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| Tri do pet odstotkov Slovencev ima genetsko nagnjenost k življenje ogrožajočim boleznim |
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| Trisomy 13/trisomy 21 mosaicism in a girl child |
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| Ujeti trenutek in ga oblikovati : ne zapisati na fotografski papir le tisto, kar vidi kamera, ampak nanj ujeti to, kar vidi duša : to je razlika med kronistom in umetnikom |
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| The use of quantitative PCR for the detection of DMD/BMD carriers and duplications in the dystrophin gene |
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| Werding-Hoffmann syndrome |
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| Xq26.2q26.3 microduplication in a boy with developmental delay, distinct facial appearance and genitourinary abnormalities |
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| Y chromosome azoospermia factor region microdeletions are not associated with idiopathic recurrent spontaneous abortion in a Slovenian population : association study and literature review |
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| Y chromosome microdeletions in subfertile men : clinical implications |
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| Zbornik radova = book of proceedings |
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