biomedicina slovenica

"Distrofija" : 67

  1. Baker Jane; Riley Genna; Romero M. Rosario; Haynes Andrew R.; Hilton Helen; Simon Michelle M; Hancock John M.; Tateossian Hilda; Ripoll Vera M.; Blanco Gonzalo
    Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1
    2010 ►
  2. Green David J.; Lenassi Eva; Manning Cerys S.; McGaughey David; Sharma Vinod; Black Graeme C. M.; Ellingford Jamie M; Sergouniotis Panagiotis I.
    North Carolina macular dystrophy
    2021 ►
  3. Kobal Nina; Krašovec Tjaša; Šuštar Maja; Volk Marija; Peterlin Borut; Hawlina Marko; Fakin Ana
    Stationary and progressive phenotypes caused by the p.G90D mutation in rhodopsin gene
    2021 ►
  4. Bollati Michela; Diomede Luisa; Giorgino Toni; Natale Carmina; Fagnani Elisa; Boniardi Irene; Barbiroli Alberto; Alemani Rebecca; Beeg Marten; Gobbi Marco; Fakin Ana
    A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation
    2021 ►
  5. Butenko Tita; Loboda Tanja; Osredkar Damjan; Zver Aleksandra; Krivec Uroš; Kotnik Primož; Homan Matjaž; Topalović Mirko; Pokorn Marko; Groleger Sršen Katja; Lešnik Musek Petra; Gosar David; Piskar Alenka; Košak Robert; Golli Tanja
    Duchenne muscular dystrophy
    novosti pri diagnosticiranju in zdravljenju
    [Duchennova mišična distrofija]
    2021 ►
  6. Butenko Tita; Loboda Tanja; Osredkar Damjan; Zver Aleksandra; Krivec Uroš; Kotnik Primož; Homan Matjaž; Topalović Mirko; Pokorn Marko; Groleger Sršen Katja; Lešnik Musek Petra; Gosar David; Piskar Alenka; Košak Robert; Golli Tanja
    Duchennova mišična distrofija - novosti pri diagnosticiranju in zdravljenju
    [Duchenne muscular dystrophy - novelties in diagnostics and treatment]
    2021 ►
  7. De Silva Samantha R.; Arno Gavin; Robson Anthony G.; Fakin Ana; Pontikos Nikolas; Mohamed Moin D.; Bird Alan C.; Moore Anthony T.; Michaelides Michel; Webster Andrew R.; Mahroo Omar A.
    The X-linked retinopathies
    2021 ►
  8. Drole Torkar Ana; Avbelj Stefanija Magdalena; Bertok Sara; Trebušak Podkrajšek Katarina; Debeljak Maruša; Stirn-Kranjc Branka; Battelino Tadej; Kotnik Primož
    Novel insights into monogenic obesity syndrome due to INPP5E gene variant
    2021 ►
  9. Osredkar Damjan
    Duchenne muscular dystrophy (DMD)
    2020 ►
  10. Kotnik Primož; Jazbinšek Sončka; Golli Tanja; Osredkar Damjan
    Prevalence of endocrine complications in duchenne muscular dystrophy
    2019 ►
  11. Butenko Tita; Perković-Benedik Mirjana; Božičnik Saša; Osredkar Damjan
    From upper respiratory tract infection and myocarditis to the diagnosis of a child female carrier of Duchenne Muscular Dystrophy
    2019 ►
  12. Golli Tanja; Butenko Tita; Loboda Tanja; Osredkar Damjan
    One-year follow-up of Slovenian DMD patients treated with Ataluren
    2019 ►
  13. Kurent Alma; Brecelj Jelka; Stirn-Kranjc Branka
    Optical coherence tomography and autofluorescence in children with infantile nystagmus syndrome and early-onset retinal dystrophy
    2019 ►
  14. Ellingford Jamie M; Sergouniotis Panagiotis I.; Lennon Rachel; Bhaskar Sanjeev S; Williams Simon G; Hillman Kate A; O'Sullivan James; Hall Georgina; Ramsden Simon C.
    Pinpointing clinical diagnosis through whole exome sequencing to direct patient care
    2015 ►
  15. Halford Stephanie; Liew Gerald; Mackay Donna S.; Sergouniotis Panagiotis I.; Holt G. Richard; Broadgate Suzanne; Volpi Emanuela; Ocaka Louise; Robson Anthony G.; Holder Graham
    Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy
    2014 ►
  16. Ellingford Jamie M; Barton Stephanie J.; Bhaskar Sanjeev S; O'Sullivan James; Williams Simon G; Lamb Janine A; Panda Binay; Sergouniotis Panagiotis I.; Gillespie Rachel L.; Daiger Stephen P
    Molecular findings from 537 individuals with inherited retinal disease
    2016 ►
  17. Medved Petra; Osredkar Damjan; Cimperman Jure; Kogelnik Sanja
    Dušenova mišična distrofija
    2019 ►
  18. Ellingford Jamie M; Sergouniotis Panagiotis I.; Jenkins Emma; Black Graeme C. M.
    Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy
    2017 ►
  19. Sergouniotis Panagiotis I.; Robson Anthony G.; El-Asrag Mohammed E.; Ali Manir; Holder Graham; Black Graeme C. M.; Webster Andrew R.; Plagnol Vincent
    Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype
    2017 ►
  20. Sergouniotis Panagiotis I.; Barton Stephanie J.; Waller Sarah; Perveen Rahat; Ellingford Jamie M; Campbell Christopher; Hall Georgina; Gillespie Rachel L.; Bhaskar Sanjeev S; Ramsden Simon C.
    The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
    2016 ►
  21. Sergouniotis Panagiotis I.; McKibbin Martin; Robson Anthony G.; Bolz Hanno J.; De Baere Elfride; Müller Philipp L.; Heller Raoul; El-Asrag Mohammed E.; Van Schil Kristof; Plagnol Vincent
    Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene
    2015 ►
  22. Kolenc Danijela
    Biopsija mišića
    2018 ►
  23. Loboda Tanja; Butenko Tita; Golli Tanja; Osredkar Damjan
    Začetek zdravljenja otrok s spinalno mišično distrofijo z zdravilom Nusinersenom
    2019 ►
  24. Jarc-Vidmar Martina; Fakin Ana; Glavač Damjan; Šuštar Maja; Jaki Mekjavić Polona; Hawlina Marko
    Zanimiv fenotip in elektrofiziološki rezultati slovenske družine z Bestovo vitelliformno distrofijo s potrjeno pAla243Val BEST1 mutacijo
    [Interesting phenotype and electrophysiological finding in Slovene family with Best vitelliform dystrophy with the pAla243Val BEST1 mutation]
    2018 ►
  25. Selma-Soriano Estela; Skubic Cene; Llamusí Beatriz; Artero Rubén
    Study of neurological disordes in a drosophila model of myotonic dystrophy
    2016 ►
  26. Mavrič Noemi; Osredkar Damjan; Krivec Uroš
    Prebojna terapija znova povezala pediatre
    2017 ►
  27. Golli Tanja; Osredkar Damjan
    Novosti v zdravljenju spinalne mišične atrofije
    2017 ►
  28. Glavač Damjan; Jarc-Vidmar Martina; Vrabec Katarina; Ravnik-Glavač Metka; Fakin Ana; Hawlina Marko
    Clinical and genetic heterogeneity in Slovenian patients with BEST disease
    2016 ►
  29. Kurent Alma; Stirn-Kranjc Branka; Brecelj Jelka
    Mrežnične distrofije v povezavi z nistagmusom pri otrocih
    2015 ►
  30. Zidar Janez
    Mišične distrofije
    [Muscular dystrophies]
    2016 ►
  31. Zupan Anton; Plevnik Matej
    Plavanje distrofikov
    [Swimming of muscular dystrophy patients]
    2009 ►
  32. Kacin Alan; Tanšek Nina
    Učinkovitost aerobne vadbe in vadbe proti uporu pri bolnikih z mišičnimi distrofijami - pregled literature
    [Effectiveness of cardiorespiratory and resistance training in muscula dystrophies - literature review]
    2015 ►
  33. Meznarič Marija
    Molekularna terapija nesmiselnih mutacij pri Duchennovi mišični distrofiji
    2014 ►
  34. Jarc-Vidmar Martina; Popović Petra; Lenassi Eva; Brecelj Jelka; Glavač Damjan; Hawlina Marko
    Avtoflourescenca očesnega ozadja in optična koherentna tomografija pri distrofijah makule
    [Fundus autoflourescence and OCT imaging in macular dystrophies]
    2012 ►
  35. Mavrica aktivnega življenja
    1999 ►
  36. Scheuerbrandt Günter; Meznarič Marija
    Pismo dr. Günter Scheuerbrandta DMD srenji 18. novembra 2013
    2013 ►
  37. Meznarič Marija
    Izhodišča za molekularno terapijo Duchenove mišične distrofije
    2013 ►
  38. Strmecki Lana; Hudler Petra; Benedik-Dolničar Majda; Komel Radovan
    De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy
    2013 ►
  39. Leonardis Lea; Zidar Janez
    Motnje dihanja med spanjem pri bolnikih z živčnomišičnimi boleznimi
    2013 ►
  40. Meznarič Marija
    Udno-pojasne mišićne distrofije
    2013 ►
  41. Schollmayer Petra; Veselica Andreja; Štunf Špela; Pfeifer Vladimir
    Preskrba s tkivi na Očesni kliniki v Ljubljani
    [Eye banking at Ljubljana Eye hospital]
    2012 ►
  42. Lenassi Eva
    Optična koherentna tomografija in mikroperimetrija pri distrofijah in degeneracijah mrežnice
    [Optical coherence tomography and microperimetry in retinal dystrophies and degenerations]
    2011 ►
  43. Šmid E
    Distrofija pri otroku in pomen pravilne prehrane - prikaz primera
    [Failure to thrive in a child and the importance of proper diet - a case report]
    2010 ►
  44. Trpin Simon; Vrhovec Levin; Beharić Amer; Pahor Dušica
    Konfokalna mikroskopija v oftalmologiji
    2009 ►
  45. Pečovnik-Balon Breda; Krajnc Mitja
    Kostne spremembe in koronarne kalcifikacije pri bolnikih s sladkorno boleznijo in pri bolnikih, zdravljenih s hemodializo
    [Bones disease and coronary calcifications in diabetic patients and in patients, treated with haemodialysis]
    2009 ►
  46. Jakopin Eva; Pečovnik-Balon Breda
    Vitamin D in kronična ledvična bolezen
    2008 ►
  47. Avberšek-Lužnik Ivica; Pečovnik-Balon Breda; Adamlje Anton; Rus Igor; Marc Janja
    Citokinski sistem OPG/RANKL/RANK pri ledvični osteodistrofiji
    [OPG/RANKL/RANK cytokine system in renal osteodystrophy]
    2007 ►
  48. Brecelj Jelka; Stirn-Kranjc Branka
    Vidna elektrofiziologija pri otroku
    [Visual electrophysiology in children]
    2005 ►
  49. Cetin-Lovšin Irena
    Otrok matere s kronično nevrološko boleznijo
    [A child born to mother with chronic neurologic disease]
    2005 ►
  50. Peterlin Borut
    Genetsko svetovanje pri epilepsiji in drugih nevroloških boleznih
    [Genetic counseling for epilepsy and other neurological diseases]
    2005 ►
  51. Battelino Tadej; Kranjc Natalija; Trebušak Katarina; Kržišnik Ciril
    X-vezana adrenolevkodistrofija
    2002 ►
  52. Neubauer David; Šušteršič Breda; Paro-Panjan Darja; Peterlin Borut; Zidar Janez
    Kongenitalna miotonična distrofija - prikaz primera
    [Congenital myotonic dystrophy - case report]
    2001 ►
  53. Gnidovec B; Kopač Š
    Krabbejeva levkodistrofija
    [Krabbe leukodystrophy]
    2000 ►
  54. Logar Dušan
    Zunajsklepni revmatizem
    [Extraarticular rheumatism]
    2001 ►
  55. Kopač Š; Vandot Š; Frelih J
    Metakromatska levkodistrofija
    1979 ►
  56. Vandot Š; Kopač Š; Frelih J
    KRABBEJEVA LEVKODISTROFIJA
    1979 ►
  57. Šibanc Branko; Lešničar Gorazd
    Sudeckova distrofija pri lymski boreliozi
    2000 ►
  58. Glavač D; Ravnik-Glavač M
    Pomen izsledkov projekta človeški genom za diagnosticiranje bolezni v prihodnje
    [The impact of the human genome project on the future diagnostics of diseases]
    2000 ►
  59. Stirn-Kranjc Branka
    Retinalne distrofije
    [Retinal dystrophies]
    1998 ►
  60. Hoefferle-Felc Alenka
    Refleksna simpatična distrofija - zdaj kompleksni regionalni bolečinski sindrom (KRBS): mehanizem nastanka in mesto rehabilitacijske obravnave pri zdravljenju
    1998 ►
  61. Šimić Z; Mertz M
    Mrljasta i rešetkasta distrofija rožnice: klinika, histopatologija i diferencijalna diagnoza
    1995 ►
  62. Satler J; Glišić Lj
    Lipodistrofija
    1990 ►
  63. Kaplan-Pavlovčič S; Drinovec J; Koselj M; Jevtić V; Vizjak A; Ponikvar R
    Dializna artropatija pri bolnikih več let zdravljenih s kronično hemodijalizo
    [Dialysis arthropathy in patients treated by chronic hemodialysis for several years]
    1989 ►
  64. Bren A; Drinovec J; Guček A; Lindič J; Kandus A; Ponikvar R; Kveder R; Varl J; Benedik M
    Osteodistrofija kod bolesnika na kontinuiranoj ambulatornoj peritonealnoj dializi (CAPD)
    [Renal osteodystrophy in patients treated by continuous ambulatory peritoneal dialysis (CAPD)]
    1989 ►
  65. Benedik M; Drinovec J; Ponikvar R; Kandus A; Koselj M
    Aluminijska osteopatija
    [Aluminum-related bone disease]
    1989 ►
  66. Lazović M; Kojović Z; Kostić O
    Algodistrofija kao posledica povrede donjih ekstremiteta
    1987 ►
  67. Polović A; Pavan G; Vitas B; Bobić Ž; Bobić G
    Renalna osteodistrofija u bolesnika liječenih kroničnom intermitentnom hemodijalizom
    [Renal osteodystrophy in patients treated by regular hemodialysis]
    1988 ►


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