biomedicina slovenica

"AGE OF ONSET" : 56

  1. Marmolejo David Humberto; Zheng Wong Mark Yu; Bajalica-Lagercrantz Svetlana; Tischkowitz Marc; Balmaña Judith; Balázs Patócs Attila; Colas Chrystelle; Genuardi Maurizio; Klink Barbara; Krajc Mateja
    Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
    2021 ►
  2. Zevnik Katarina; Blatnik Ana; Novaković Srdjan; Hribernik Nežka
    CDKN2A-positive melanoma patient treated with combination immunotherapy
    2022 ►
  3. Banić Ivana; Lovrić Mario; Cuder Gerald; Kern Roman; Rijavec Matija; Korošec Peter; Kljajić-Turkalj Mirjana
    Treatment outcome clustering patterns correspond to discrete asthma phenotypes in children
    2021 ►
  4. Vogrinc David; Goričar Katja; Dolžan Vita
    Genetic Variability in Molecular pathways implicated in Alzheimer's disease
    2021 ►
  5. Simetinger Gabrijela
    Spolnost v tretjem življenjskem obdobju
    2020 ►
  6. Zupan Andrej; Fakin Ana; Battelino Saba; Jarc-Vidmar Martina; Hawlina Marko; Bonnet Crystel; Petit Christine; Glavač Damjan
    Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutation
    2019 ►
  7. Sergouniotis Panagiotis I.; Perveen Rahat; Thiselton Dawn L.; Giannopoulos Konstantinos; Sarros Marios; Davies Jennifer R.; Biswas Susmito; Ansons Alec M.; Ashworth Jane L.; Lloyd Christopher I.
    Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
    2015 ►
  8. Bonnet Crystel; Riahi Zied; Chantot-Bastaraud Sandra; Smagghe Luce; Fakin Ana; Glavač Damjan; Jarc-Vidmar Martina; Zupan Andrej; Battelino Saba; Hawlina Marko
    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
    2016 ►
  9. Vujasinović Miroslav; Tepeš Bojan; Vujkovac Bojan; Cokan Vujkovac Andreja; Tretjak Martin; Korat Vesna
    Exocrine pancreatic insufficiency is not a cause of abdominal complaints in patients with fabry disease
    2015 ►
  10. Vujasinović Miroslav; Tepeš Bojan; Vujkovac Bojan; Cokan Vujkovac Andreja; Tretjak Martin; Korat Vesna
    Exocrine pancreatic insuffiency is not a cause of abdominal complaints in patients with Fabry disease
    2015 ►
  11. Whitaker Hayley C.; Krajc Mateja; Žgajnar Janez
    The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine
    2010 ►
  12. Kojović Maja; Cordivari Carla; Bhatia Kailash P.
    Myoclonic disorders
    2011 ►
  13. Rubio-Agusti Ignacio; Kojović Maja; Edwards Mark J.; Murphy Elaine; Chandrashekar Hoskote S.; Lachmann Robin H.; Bhatia Kailash P.
    Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review
    2012 ►
  14. Polman Chris H.; Kappos Ludwig; Freedman Mark S.; Edan G; Hartung Hans-Peter; Miller D. H.; Montalbán X.; Barkhof F.; Selmaj K.; Uitdehaag B. M. J.; Šega Saša
    Subgroups of the BENEFIT study
    2008 ►
  15. Kojović Maja; Gregorič Kramberger Milica; Pirtošek Zvezdan
    #The #syndrome of deafness-dystonia
    2013 ►
  16. Fakin Ana; Zupan Andrej; Glavač Damjan; Hawlina M
    Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome
    2012 ►
  17. Mervic Liljana
    Influence of sex and age on survival of patients with cutaneous melanoma
    2011 ►
  18. Nadalin S; Rubeša G; Giacometti J; Vulin M; Tomljanović D; Vraneković J; Kapović M; Buretić-Tomljanović A
    BanI polymorphism of cytosolic phospholipase A2 gene is associated with age at onset in male patients with schizophrenia and schizoaffective disorder
    2008 ►
  19. Jurišić Davor; Ković Ivor; Lulić Ileana; Stanec Zdenko; Kapović Miljenko; Uravić Miljenko
    Dupuytren's disease characteristics in Primorsko-goranska county, Croatia
    2008 ►
  20. Mohar Janez; Mihalič Rene; Hero Nikša
    Primerjava operativnega zdravljenja skolioz v Ortopedski bolnišnici Valdoltra v letih 1998 in 2008
    [A comparison of operative treatement of scoliosis at the Valdoltra Orthopaedic hospital in years 1998 and 2008]
    2009 ►
  21. Alzolibani A
    Genetic epidemiology and heritability of vitiligo in the Qassim region of Saudi Arabia
    2009 ►
  22. Spinazzola A; Invernizzi F; Carrara F; Lamantea E; Donati A; Dirocco M; Giordano I; Meznaric-Petrusa M; Baruffini E; Ferrero I; Zeviani M
    Clinical and molecular features of mitochondrial DNA depletion syndromes
    2009 ►
  23. Vidovič-Valentinčič N; Kraut A; Hawlina M; Stunf S; Rothova A
    Intermediate uveitis: long-term course and visual outcome
    2009 ►
  24. Damgaard-Nielsen Rune; Abitz Maja; Pakkenberg Bente
    Neuron and glial cell numbers in the mediodorsal thalamic nucleus uin brains of schizophrenic subjects
    2008 ►
  25. Belhadjali H; Mohamed M; Mahmoudi H; Youssef M; Moussa A; Achour-Chouchane S; Chouchane C; Zakhama A; Zili J
    Self-healing Langerhans cell histiocytosis (Hashimoto-Pritzker disease): two Tunisian cases
    2008 ►
  26. Greenbaum Carla J; Mandrup-Poulsen Thomas; McGee Paula F; Battelino Tadej; Haastert Burkhard; Ludvigsson Johnny; Pozzilli Paolo; Lachin John M; Kolb Hubert
    Mixed-meal tolerance test versus glucagon stimulation test for the assessment of beta-cell function in therapeutic trials in type 1 diabetes
    2008 ►
  27. Rot Uroš; Horvat-Ledinek Alenka; Šega-Jazbec Saša
    Clinical, magnetic resonance imaging, cerebrospinal fluid and electrophysiological characteristics of the earliest multiple sclerosis
    2008 ►
  28. Klupka-Sarić Inge; Ristić Smiljana; Sepčić Juraj; Kapović Miljenko; Peterlin Borut; Materljan Eris; Jurišić Tonka; Martinović-Mamić Dražena; Burina Andan; Šulentić Vlatko
    Epidemiology of multiple sclerosis in western Herzegovina
    2007 ►
  29. Pavlović Miloš D; Milenković Tatjana; Dinić Miroslav; Mišović Milan; Daković Dragana; Todorović Slađana; Ðaković Zorana; Zečević Radoš D; Doder Radoje
    The prevalence of cutaneous manifestations in young patients with type 1 diabetes
    2007 ►
  30. Ribases M; Gratacos M; Fernandez-Aranda F; Bellodi L; Boni C; Anderluh M; Cavallini MC; Cellini E; Di Bella; Erzegovesi S; Foulon C; Gabrovsek M; Gorwood P; Hebebrand J; Hinney A; Holliday J; Hu X; Karwautz A; Kipman A; Komel R; Nacmias B; Remschmidt H; Ricca V; Sorbi S; Wagner G; Treasure J; Collier DA; Estivill X
    Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations
    2004 ►
  31. Medica I; Zmak M; Peršić M
    Dermatitis herpetiformis in a 30-month-old child
    2003 ►
  32. Scott Willian K; Nance Martha A; Watts Ray L; Hubble Jean P; Koller William C; Lyons Kelly; Pahwa Rajesh; Stern Matthew B; Colcher Amy; Hiner Bradley C
    Popolni genomski vzorec pri Parkinsonovi bolezni
    [Complete genomic screen in Parkinson disease]
    2002 ►
  33. Letonja M; Peterlin B; Bregar D; Petrovič D
    Are the T/C polymorphism of the CYP17 gene and the tetranucleotide repeat (TTTA) polymorphism of the CYP19 gene genetic markers for premature coronary artery disease in Caucasians?
    2005 ►
  34. Šinkovec M; Petrovič D; Volk M; Peterlin B
    Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
    2005 ►
  35. Godić A; Miljković J; Kansky A; Vidmar G
    Epidemiology of Darier's disease in Slovenia
    2005 ►
  36. Ravnik Janez; Lipovšek Matej; Sever Alenka; Bračič Katarina
    Kognitivne posledice več let po hudi kraniocerebralni travmi v otroštvu
    [Cognitive consequences several years after severe pediatric traumatic brain injury]
    2004 ►
  37. Popović Mara; Glavač Damjan; Smerkolj Sava; Švigelj Viktor; Kalan Gregor; Galvani Vesna; Černilec Maja; Bresjanac Maja
    Creutzfeldt-Jakob disease in Slovenia from 1985 to 2003
    2004 ►
  38. Gabrovšek Mojca
    Analiza kandidatnih genov za bolezni motenj hranjenja (anoreksija nervoza in bulimija nervoza)
    2004 ►
  39. Arican O; Azman E; Dervis E; Balaban D
    Total serum IgE levels in vitiligo with special consideration of atopy
    2004 ►
  40. Vrbova Gerta; Hausmanowa-Petrusewicz Irena
    Biology of some neuromuscular disorders
    [Biologija nekaterih živčnomišičnih bolezni]
    2004 ►
  41. Kos Nataša
    Posebnosti zgodnje rehabilitacije bolnikov po subarahnoidni krvavitvi
    2004 ►
  42. Rossetti Sandro; Burton Sarah; Strmecki Lana; Pond Gragory S; San Millan Jose L; Zerres Klaus; Barrat Martin T; Ozen Seza; Torres Vincente E; Bergstralh Erik J
    The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease
    2001 ►
  43. Pinter Bojana; Meden-Vrtovec Helena; Maček Maca; Verdenik Ivan; Pretnar-Darovec Alenka; Meglič Veruška; Ribič-Pucelj Martina
    Menopavza v Sloveniji: značilnosti žensk in pojavnost perimenopavznih simptomov
    [Menopause in Slovenia: women's characteristics and the frequency of perimenopausal symptoms]
    2003 ►
  44. Rener-Primec Zvonka; Kopač Štefan; Neubauer David
    Epidemiologic features of infantile spasms in Slovenia
    2002 ►
  45. Blinc-Pesek Marjeta
    Družinsko pojavljanje shizofrenije - značilnosti staršev in njihovih potomcev, obolelih za shizofrenijo
    2002 ►
  46. Salobir B; Šabovič M; Peternel P; Stegnar M; Grad A
    Classic risk factors, hypercoagulability and migraine in young women with cerebral lacunar infarctions
    2002 ►
  47. Besednjak-Kocijančič L
    Srečanje z astmo v dispanzerju za otroke
    [Meeting asthma in the primary paediatric health-centre]
    2001 ►
  48. Dernovšek MZ; Tavčar R
    Age at onset of schizophrenia and neuroleptic dosage
    1999 ►
  49. Bratanič N; Igerc-Grošelj B; Lukač-Bajalo J; Car-Logar G; Kržišnik C
    The prevalence of coeliac disease in children and adolescents with insulin dependent diabetes in Slovenia
    [Prevalenca celiakije pri otrocih in adolescentih z od insulina odvisno sladkorno boleznijo v Sloveniji]
    1997 ►
  50. Simonić E; Kaštelan M; Čabrijan L; Štašić A; Gruber F
    The influence of psychological factors on the development and course of psoriasis
    2000 ►
  51. Miljkovič J; Kecelj N; Balkovec V; Penko M; Kansky A
    Darier's disease in Slovenia
    2000 ►
  52. Stirn-Kranjc B; Canki-Klain N; Kaplan J
    Norriejeva bolezen
    1999 ►
  53. Denišlič Miro; Meh Duška
    Early asymmetric neuropathy in primary Sjoegren's syndrome
    1997 ►
  54. Leonardis L; Zidar J; Trontelj J; Peterlin B
    Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I)
    1996 ►
  55. Kambič-Budkovič M
    Clinical characteristics of the benign form of multiple sclerosis
    1995 ►
  56. Kyriakides T; Gabriel G; Drousiotou A; Meznarič-Petruša M; Middleton L
    Dystrophinopathy presenting as congenital muscular dystrophy
    1994 ►

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