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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| Book of Proceedings |
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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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| 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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| 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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| 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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| Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina |
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| Gene candidates in atherosclerosis |
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| Genealoška rekonstrukcija miotonične distrofije u Istri : efekt osnivača u župi Svetvinčenat |
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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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| 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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| 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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| Next generation sequencing : towards translation into clinical practice |
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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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| Omics technologies and neovascular ocular disorders editorial |
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| Oštećenje sluha : neonatalni probir i connexin 26 mutacije |
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| Phenotype variability in Charcot-Marie-tooth disease (CMT) type 1A |
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| Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome : meta-analysis |
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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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| Pomen raziskav na kromosomu Y = Importance of Y chromosome research |
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| Population genetic and mutation analysis of myotonic dystrophy |
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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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| Razvoj algoritma za določanje genetskega tveganja na primarni ravni zdravstvenega varstva - novo orodje v primarni preventivi : predstavitev protokola raziskave |
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| Recombination frequencies of CMT1 duplication and HNPP deletion inside a "hot spot" |
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| Reply to Sajantila and Budowle |
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| Results from 4 years of preimplantation genetic diagnostics using fluorescent in situ hybridization (FISH) method in Slovenia |
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| Retrospective epidemiological study of spinal muscular atrophy in Slovenia |
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| The role of TPA I/D and PAI-1 4G/5G polymorphisms in multiple sclerosis. |
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| Search for sarcoidosis candidate genes by integration of data from genomic, transcriptomic and proteomic studies. |
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| Sekvencioniranje druge generacije : prenošenje u kliničku praksu |
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| Specializacija iz klinične genetike |
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| Subclavian/axillary artery aneurysms in two relatives-a novel mutation in filamin A gene |
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| Syndromic deafness diagnosis the importance of exome sequencing |
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| Transcriptome profiling during anaphylactic reaction reveals movement and interaction of distinct immune cells and complex signaling networks |
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| Uporaba DNK genetskega testa v medicini = Practical considerations of DNA testing in medicine |
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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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| Vasculopathy and leukocyte telomere length in patients with Fabry disease |
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| Werding-Hoffmann syndrome |
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| Woodhouse-Sakati syndrome : case report and symptoms review |
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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 infertile men with cryptorchidism. |
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| Zbornik radova |
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