Maver, Aleš, 1984-
Maver, Aleš
Aleš Maver
VIAF ID: 308294745 ( Personal )
Permalink: http://viaf.org/viaf/308294745
Preferred Forms
- 100 0 _ ‡a Aleš Maver
-
- 100 1 _ ‡a Maver, Aleš, ‡d 1984-
4xx's: Alternate Name Forms (4)
Works
Title | Sources |
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Clinical exome sequencing in dementias : a preliminary study | |
Commercial genetic testing and society | |
Current practice and future perspective of the Prenatal Genetic Service in Slovenia | |
- Diagnostic utility of clinical exome sequencing in a cohort of patients with hereditary polyneuropathies | |
Genetics of sarcoidosis | |
Genome-wide expression profile as a biomarker in prenatal diagnosis of Down syndrome | |
The importance of NSG in teh diagnosis of syndromic deafness | |
Improving diagnostics of rare genetic diseases with NGS approaches | |
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome | |
Insights into the pathogenesis of Stargardt disease associated with splicing mutation c.5714+5G>A in ABCA4 gene | |
The insulin-like growth factor 2 receptor gene Gly1619Arg polymorphism and idiopathic recurrent spontaneous abortion | |
Integrative 'omic' approach towards understanding the nature of human diseases | |
Interleukin-6, interleukin-12 and interleukin-18 gene polymorphisms in Slovenian sarcoidosis patients | |
Kot bi odkrili nov planet : Irena Lesjak ... [et al.] | |
Liraglutid lahko izboljšuje možnosti za zanositev | |
MetaPHoDcast 34: Aleš Maver, genetik | |
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring | |
Multiple sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes | |
Mutations in SCN3A cause early infantile epileptic encephalopathy | |
MYH7-related disorders in two Bulgarian families : novel variants in the same region associated with different clinical manifestation and disease penetrance | |
Next generation clinical genetics : genotype first or phenotype first approach | |
No evidence of del(GJB6-D13S1830) mutation in prelingually non-syndromic hearing impaired Croatians and Slovenians | |
Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder case report | |
Nova spoznanja na področju genetike sarkoidoze | |
Nove tehnologije v medicinski genetski diagnostiki New technologies in medical genetic diagnostics : zbornik povzetkov | |
Novel association of biallelic ATOH1 variants with pontocerebellar hypoplasia, developmental delay and hearing loss | |
Novel NOTCH3 cystein-altering mutation in a patient with cadasil presenting as migraine with aura | |
On the path towards whole genome sequencing in elucidating genetic causes of human disease | |
Peroxisome proliferator-activated receptor [gamma]/PRO12Ala polymorphism and peroxisome proliferator-activated receptor [gamma] coactivator-1 alpha/gly482Serpolymorphism in patients with sarcoidosis | |
Phenotype and genotype spectrum of patients with a bilateral optic neuropathy in population of Slovenia | |
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation | |
Phenotypic characterization of Stargardt disease cases carrying the frequent ABCA4 mutation c.5714 1 5G[ A (p.[= ,Glu1863Leufs*33]) using electrophysiology | |
Polymorphism of the ADRB2 rs1042713 gene is not associated with spontaneous preterm birth : analyses in a Slovenian sample and meta analysis | |
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome : meta-analysis | |
Positional integratomic approach in identification of genomic candidate regions for Parkinson's disease | |
Positive association of PPARG2 and PPARGC1A gene polymorphisms with sarcoidosis susceptibility | |
Potek bolezni pri bolnikih z distrofijo čepnic povezano z mutacijo v RPGR Longitudinal follow-up of patients with cone dystrophy associated mutation in RPGR | |
Potential protective role of a NOD2 polymorphism in the susceptibility to multiple sclerosis is not associated with interferon therapy | |
Pregled bolnikov z Nethertonovim sindromom v Sloveniji v zadnjih 30 letih | |
Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia | |
Primjena sekvenciranja nove generacije u pedijatrijskoj dijagnostici | |
Putative mesenchymal stem cells isolated from adult human ovaries | |
Rare genetic variants: patients with dementia and population | |
Rare missense TUBGCP5 gene variant in a patient with primary microcephaly | |
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects | |
Regulation of L-lactate metabolism via GPCR | |
The relative preservation of the central retinal layers in Leber hereditary optic neuropathy | |
The Role of Epigenetics in Neurodegenerative Diseases | |
Sarcoidosis related novel candidate genes identified by multi-omics integrative analyses | |
Search for sarcoidosis candidate genes by integration of data from genomic, transcriptomic and proteomic studies | |
Sekvencioniranje druge generacije : prenošenje u kliničku praksu | |
Sharing is caring-the significance of data sharing in the era of genomics | |
Show me your endometrial transcriptome and I will tell you your body weight | |
Significant differences in gene expression and ontology profile exist between human granulosa and cumulus cells surrounding mature oocytes | |
Slovenski raziskovalci Kliničnega inštituta za medicinsko genetiko prvi na svetu odkrili nov gen za sindrom prezgodnjega staranja | |
Slovensko superračunalniško omrežje Sling oddaja Intelekta, Radio SLO 1, 13. 6. 2017 | |
Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases | |
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data | |
SOX5-associated intelectuall disabillity an underdiagnosed syndrome? | |
Stargardt-like clinical characteristics and disease course associated with variants in the WDR19 gene | |
Survival among children with "lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN) | |
Synthesis of heterogeneous genomic data in discovery of genetic factors for multifactorial diseases | |
Targeted next generation sequencing as strategy for the diagnosis of congenital erythrocytosis in Slovenian clinical practice | |
Tecnologie di sequenziamento di nuova generazione per la caratterizzazione molecolare di casi sindromici con fenotipo uditivo | |
Transcriptome profiling during anaphylactic reaction reveals movement and interaction of distinct immune cells and complex signaling networks | |
Transcriptome profiling uncovers potential common mechanisms in fetal trisomies 18 and 21 | |
Transcriptome study of receptive endometrium in overweight and obese women shows important expression differences in immune response and inflammatory pathways in women who do not conceive | |
Transcriptomic analysis and meta-analysis of human granulosa and cumulus cells | |
Transcriptomic analysis identify molecular pattern of anaphylaxis | |
Transcriptomic signatures for human male infertility | |
The transformative impact of next generation sequencing in diagnosis and research of rare diseases | |
Uporaba eksomskega sekvenciranja pri diagnosticiranju genetskih bolezni oči | |
Vaginal microbiome signature is associated with spontaneous preterm delivery | |
Vloga duplikacijskega polimorfizma v genu za hitotriozidazo pri sarkoidozi | |
Volilna vesela jesen s češko češnjo na torti | |
Whole-genome sequencing in diagnostics of selected Slovenian undiagnosed patients with rare disorders | |
Zbornik radova = Book of proceedings |