biomedicina slovenica

"CONGENITAL" : 893

  1. Pušnik Luka; Plut Domen
    Abernethyjeva malformacija
    [Abernethy malformation]
    2022 ►
  2. Pušnik Luka; Slak Peter
    Subtotalno razcepljena prsnica - prikaz primera
    [Subtotal sternal cleft - a case report]
    2022 ►
  3. Fekonja Anita; Čretnik Andrej
    Comparison of craniofacial morphology in individuals with and without hypodontia with a special focus on the number of congenitally missing teeth
    2022 ►
  4. Šmigoc Schweiger Darja; Davidović Povše Maja; Trebušak Podkrajšek Katarina; Battelino Tadej; Avbelj Stefanija Magdalena
    GNRHR-related central hypogonadism with spontaneous recovery - case report
    2022 ►
  5. Bešič Hana; Grosek Štefan; Simčič Saša; Lah Liza Lea
    Diagnosticiranje kongenitalnega sifilisa pri novorojenčku
    [Diagnosis of congenital syphilis in the newborn]
    2022 ►
  6. Luzar Boštjan
    Congenital intradermal melanoma in giant congenital naevus
    2022 ►
  7. Giambi Cristina; Montano-Remacha C.; Pastore Celentano L.; Derrough T.; Sočan Maja
    Surveillance of congenital rubella and rubella infections in pregnancy in EU/EEA countries, 2012
    2015 ►
  8. Nahtigal Maja
    Enostranska kronična nosna obstrukcija in kongesija v sklopu enostranskega prirojenega Hornerjevega sindroma
    [A case report of a patient with congenital unilateral Horner syndrome and ipsilateral chronic nasal obstruction and congestion]
    2022 ►
  9. Jensterle Sever Mojca; Podbregar Ana; Janež Andrej; Rakuša Matej; Goričar Katja; Prokšelj Katja
    Comparison of plasma metanephrines in patients with cyanotic and acyanotic congenital heart disease
    2022 ►
  10. Pušnik Luka; Pečlin Polona; Plut Domen
    Slikovno diagnosticiranje prirojene diafragmalne kile
    [Diagnostic imaging of congenital diaphragmatic hernia]
    2022 ►
  11. Kuralt Hojka; Fidler Aleš; Blatnik Ana; Novaković Srdjan; Plavc Gaber
    Bilateral parotid glands aplasia
    2022 ►
  12. Iosifidis Christos; Liu Jingshu; Gale Theodora; Ellingford Jamie M; Campbell Christopher; Ingram Stuart; Chandler Kate; Parry Neil R.A.; Black Graeme C. M.; Sergouniotis Panagiotis I.
    Clinical and genetic findings in TRPM1-related congenital stationary night blindness
    2022 ►
  13. Karas Kuželički Nataša; Šmid Alenka; Vidmar Maša; Kek Tina; Geršak Borut; Mazić Uroš; Mlinarič-Raščan Irena; Geršak Ksenija
    A common polymorphism in the MTHFD1 gene is a modulator of risk of congenital heart disease
    2022 ►
  14. Jensterle Sever Mojca; Podbregar Ana; Janež Andrej; Rakuša Matej; Goričar Katja; Prokšelj Katja
    Comparison of plasma metanephrines in patients with cyanotic and acyanotic congenital heart disease
    2022 ►
  15. Vodopivec Sara; Petrovec Miroslav; Steblovnik Lili
    Okužba s citomegalovirusom v nosečnosti
    [Citomegalovirus infection in pregnancy]
    2022 ►
  16. 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 ►
  17. Li Han-Yan; Tsai Feng-Chun; Lu Cheng-Hui; Chou An-Hsun; Huang Huei-Chiun; Geršak Borut
    Sutureless valve in bicuspid aortic stenosis
    2022 ►
  18. Harlander Matevž; Badovinac Maja; Markoska Frosina; Salobir Barbara; Štupnik Tomaž; Dolenšek Marija; Kern Izidor; Gorjup Vojka; Galiè Nazzareno
    Case report
    2022 ►
  19. Živković Tijana; Ivović Vladimir; Vujanić Marija; Klun Ivana; Bobić Branko; Nikolić Aleksandra; Djurković-Djaković Olgica
    Adverse fetal outcome in the absence of timely prenatal diagnosis of congenital toxoplasmosis
    2011 ►
  20. Lee Edward Y.; Vargas Sara O.; Park Halley J.; Plut Domen; Krone Katie A.; Winant Abbey J
    Thoracic MDCT findings of a combined congenital lung lesion
    2021 ►
  21. Weiss Miha; Djordjević Anže; Gebauer Roman; Elek Miroslav; Topalović Mirko; Senekovič Teja; Zupan Andraž; Jelenc Matija; Koželj Mirta
    The first successful double switch operation for congenitally corrected transposition of the great arteries in Slovenia
    [Prva popolnoma uspešna poprava po prirojeni popravljeni transpoziciji velikih arterij v Sloveniji]
    2021 ►
  22. Zečkanović Aida; Cerar Sandra
    Prirojena aplazija kože
    [Congenital skin aplasia]
    2021 ►
  23. Correa-da-Silva Felipe; Fliers Eric; Swaab Dick Frans; Yi Chun-Xia
    Hypothalamic neuropeptides and neurocircuitries in Prader Willi syndrome
    2021 ►
  24. Šoba Barbara; Puš Tjaša; Lusa Lara
    Slovenian national screening programme for prevention of congenital toxoplasmosis
    2021 ►
  25. Trang Ha; Samuels Martin Philip; Ceccherini Isabella; Frerick Matthias; Garcia-Teresa Maria Angeles; Peters Jochen; Schoeber Johannes; Migdal Marek; Markstrom Agneta; Gnidovec Stražišar Barbara
    Guidelines for diagnosis and management of congenital central hypoventilation syndrome
    2020 ►
  26. Milenković Kikelj Nina; Nosan Gregor
    Prirojena okužba z virusom citomegalije
    [Congenital cytomegalovirus infection]
    2018 ►
  27. Tomc Jana; Debeljak Nataša
    Molecular pathways involved in the development of congenital erythrocytosis
    2021 ►
  28. Loeber J. Gerard; Platis Dimitris; Zetterström Rolf H.; Almashanu Shlomo; Boemer François; Bonham James; Borde Patricia; Brincat Ian; Cheillan David; Dekkers Eugenie; Grošelj Urh
    Neonatal screening in Europe revisited
    2021 ►
  29. Baris Lucia; Ladouceur Magalie; Johnson Mark R.; Koželj Mirta; Festa Pierluigi; Caruana Maryanne; Chee Kok Han; Gilljam Thomas
    Pregnancy in tetralogy of fallot data from the ESC EORP ROPAC registry
    2021 ►
  30. Brida Margarita; Simkova Iveta; Jovović Ljiljana; Prokšelj Katja; Antonova Petra; Balint Hajnalka Olga; Gumbiene Lina; Lebid Ihor H.; Lebid Ihor H.; Kratunkov Pencho
    European Society of Cardiology Working Group on Adult Congenital Heart Disease and Study Group for Adult Congenital Heart Care in Central and South Eastern European Countries consensus paper
    2021 ►
  31. Osredkar Damjan; Verdenik Ivan; Troha Gergeli Anja; Geršak Ksenija; Lučovnik Miha
    Apgar score and risk of cerebral palsy in preterm infants
    2021 ►
  32. Babić Božović Ivana; Maver Aleš; Leonardis Lea; Meznarič Marija; Osredkar Damjan; Peterlin Borut
    Diagnostic yield of exome sequencing in myopathies
    2021 ►
  33. Anžej Doma Saša; Kristan Aleša; Debeljak Nataša; Preložnik-Zupan Irena
    Congenital erythrocytosis - A condition behind recurrent thromboses
    2021 ►
  34. Golobič Valentina; Nosan Gregor; Bertok Sara; Frelih Maja; Boštjančič Emanuela; Rus Rina
    A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant
    2021 ►
  35. Anžej Doma Saša; Drnovšek Eva; Kristan Aleša; Fink Martina; Sever Matjaž; Podgornik Helena; Belčič Tanja; Debeljak Nataša; Preložnik-Zupan Irena
    Diagnosis and management of non-clonal erythrocytosis remains challenging
    2021 ►
  36. Tsai Feng-Chun; Li Han-Yan; Chou An-Hsun; Huang Huei-Chiun; Geršak Borut
    Modified implant technique of perceval sutureless valve in congenital type 0 bicuspid valve stenosis
    2021 ►
  37. Bratina Petra; Ključevšek Damjana; Paro Panjan Darja; Kersnik-Levart Tanja
    Urinary neutrophil gelatinase-associated lipocalin as a marker of urinary tract obstruction in newborns with congenital unilateral urinary tract dilatation
    2021 ►
  38. Vraneković Jadranka; Babić Božović Ivana; Živković Maja; Stanković Aleksandra; Brajenović-Milić Bojana
    LINE-1 DNA methylation and congenital heart defects in Down syndrome
    2019 ►
  39. Martel-Duguech Luciana; Jorgensen Jens Otto L; Korbonits Márta; Johannsson Gudmundur; Webb Susan M.; Kocjan Tomaž; Mlekuš Katarina
    ESE audit on management of adult growth hormone deficiency in clinical practice
    2021 ►
  40. Halec Bine; Žunkovič Olga; Horvat-Pinterić Gordana; Lorber Mateja
    Kakovost življenja oseb s Pompejevo boleznijo
    [Quality of life of patients with Pompe disease]
    2021 ►
  41. Malej Andrej; Avbelj Stefanija Magdalena; Bratanič Nevenka; Trebušak Podkrajšek Katarina
    Familial non-autoimmune hyperthyroidism in family members across four generations due to a novel disease-causing variant in the thyrotropin receptor gene
    2020 ►
  42. Kristan Aleša; Gašperšič Jernej; Režen Tadeja; Kunej Tanja; Količ Rok; Vuga Andrej; Fink Martina; Žula Špela; Anžej Doma Saša; Preložnik-Zupan Irena; Pajič Tadej; Podgornik Helena; Debeljak Nataša
    Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis
    2021 ►
  43. Lenassi Eva; Clayton-Smith Jill; Douzgou Sofia; Ramsden Simon C.; Ingram Stuart; Hall Georgina; Hardcastle Claire L. H; Fletcher Tracy; Taylor Rachel L.; Sergouniotis Panagiotis I.
    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
    2020 ►
  44. Kersnik-Levart Tanja; Klokočovnik Tomislav
    Mid-aortic syndrome in a 3-year-old girl
    2012 ►
  45. Lozar Krivec Jana; Kosmač Blaž; Paro Panjan Darja
    Preoperative clinical neurological assessment in new-borns with critical congenital heart disease
    2020 ►
  46. Jurakić Tončić Ružica; Murat Susic Slobodna; Curkovic Danijela; Petkovic Mikela; Luzar Boštjan; Ilic Ivana
    Pigmented epithelioid melanocytoma in congenital nevus of medium size in children
    2020 ►
  47. Miksić Mirjana; Mujezinović Faris; Selič Serdinšek Maruša; Weiss Miha; Prijić Sergej
    A scimitar syndrome variant associated with critical aortic coarctation in a newborn
    2020 ►
  48. Babić Božović Ivana; Vraneković Jadranka; Starčević-Čizmarević Nada; Mahulja-Stamenković Vesna; Prpić Igor; Brajenović-Milić Bojana
    MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome
    2011 ►
  49. Peček Jerneja; Fister Petja; Homan Matjaž
    Abernethy syndrome in Slovenian children
    2020 ►
  50. Kurent Alma; Kosec Dragica
    Surgical treatment of a patient with congenital nystagmus with compensatory head posture
    [Kirurško zdravljenje bolnice s prirojenim nistagmusom s kompenzatorno držo glave - prikaz primera]
    2020 ►
  51. Leskovar Tamara; Županek Bernarda
    Paleopatološka študija petih skeletov iz poznoantičnega grobišča pri Dravljah
    [Palaeopathological study of five individuals from the late antiquity cemetery at Dravlje]
    2020 ►
  52. Božanić Urbančič Nina; Battelino Saba; Tesovnik Tine; Trebušak Podkrajšek Katarina
    The importance of early genetic diagnostics of hearing loss in children
    2020 ►
  53. Stangler Herodež Špela; Marčun-Varda Nataša; Kokalj-Vokač Nadja; Krgović Danijela
    De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly
    2020 ►
  54. Vidmar Maša; Trontelj Jurij; Geršak Ksenija; Mlinarič-Raščan Irena; Šmid Alenka
    Simultaneous quantification of intracellular concentrations of clinically important metabolites of folate-homocysteine cycle by LC-MS/MS
    2020 ►
  55. Pavšič Nejc; Koritnik Polona; Prokšelj Katja
    Sistemski desni prekat pri odraslih bolnikih s prirojenimi srčnimi napakami
    [Systemic right ventricle in adult patients with congenital heart disease]
    2020 ►
  56. Hribar Manja; Šuput Dušan; Battelino Saba; Vovk Andrej
    Structural brain alterations in prelingually deaf
    2020 ►
  57. Troha Gergeli Anja; Neubauer David; Golli Tanja; Butenko Tita; Loboda Tanja; Maver Aleš; Osredkar Damjan
    Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia
    2020 ►
  58. Albreht Laura; Kristan Aleša; Kunej Tanja; Debeljak Nataša
    Analysis of BPGM gene variations in congenital erythrocytosis
    2020 ►
  59. Österlund Pamela; Jiang Miao; Westenius Veera; Kuivanen Suvi; Järvi Riia; Kakkola Laura; Lundberg Rickard; Melén Krister; Korva Miša; Avšič-Županc Tatjana
    Asian and African lineage Zika viruses show differential replication and innate immune responses in human dendritic cells and macrophages
    2019 ►
  60. Selič Polona; Klemenc-Ketiš Zalika; Zelko Erika; Kravos Andrej; Rifel Janez; Makivić Irena; Poplas-Susič Tonka; Tevžič Špela; Cerovič Metka; Peterlin Borut; Kopčavar Guček Nena
    Development of an algorithm for determining of genetic risk at the primary healthcare level - a new tool for primary prevention
    [Razvoj algoritma za določanje genetskega tveganja na primarni ravni zdravstvenega varstva - novo orodje v primarni preventivi]
    2020 ►
  61. Kurent Alma; Brecelj Jelka; Stirn-Kranjc Branka
    Optical coherence tomography and fundus autofluorescence in children with infantile nystagmus syndrome and early-onset retinal dystrophy
    2019 ►
  62. Jelenc Nika; Eberlinc Andreja; Hočevar-Boltežar Irena
    Motnje hranjenja in požiranja pri otrocih z razcepi v orofacialnem področju
    [Feeding and swallowing disorders in children with clefts in the orofacial region]
    2019 ►
  63. Troha Gergeli Anja; Neubauer David; Golli Tanja; Butenko Tita; Loboda Tanja; Maver Aleš; Osredkar Damjan
    Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia
    2019 ►
  64. Troha Gergeli Anja; Golli Tanja; Neubauer David; Butenko Tita; Loboda Tanja; Osredkar Damjan
    Prevalence and genetic subtypes of congenital myasthenic syndromes in Slovenian children
    2019 ►
  65. Grabnar Jera; Rus Rina
    Is renal scintigraphy really a necessity in the routine diagnosis of congenital solitary kidney?
    2019 ►
  66. Fister Petja; Gržinić Janja; Gubanc Albina
    Novorojenček s prirojeno srčno napako
    [Newborn with congenital heart disease]
    2017 ►
  67. Kristan Aleša; Debeljak Nataša; Kunej Tanja
    Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis
    2019 ►
  68. Avni E. Fred; Lerisson Heloise; Lobo Maria-Luisa; Cartigny Maryse; Napolitano Marcello; Mentzl Hans-J.; Riccabona Michael; Wozniak Magdalena; Ključevšek Damjana; Augdal Thomas A.
    Plea for a standardized imaging approach to disorders of sex development in neonates
    2019 ►
  69. Bajuk-Studen Katica; Avbelj Magdalena; Saveanu Alexandru; Barlier Anne; Brue Thierry; Pfeifer Marija
    Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency
    2019 ►
  70. Plut Domen; Gorjanc Tamara
    A case of a newborn with an intrahepatic congenital portosystemic venous shunt with concurrent congenital duodenal web
    2019 ►
  71. Mazereeuw-Hautier Juliette; Hernandez-Martin A.; O'Toole Edel A.; Bygum A.; Amaro C.; Aldwin M.; Audouze A.; Bodemer C.; Bourrat E.; Diociaiuti A.; Dolenc-Voljč Mateja
    Management of congenital ichthyoses
    2019 ►
  72. Sergouniotis Panagiotis I.; Davidson Alice E.; Mackay Donna S.; Li Zheng; Xu Yang; Plagnol Vincent; Moore Anthony T.; Webster Andrew R.
    Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis
    2011 ►
  73. Kurent Alma; Kosec Dragica
    Kirurška obravnava pacientke s prirojenim nistagmusom in abnormnim položajem glave - prikaz primera
    [Surgical treatment in a patient with congenital nystagmus and an abnormal head position - a case report]
    2018 ►
  74. Tekavčič Pompe Manca
    Korekcija afakije s kontaktnimi lečami pri otrocih po zgodnji operaciji prirojene sive mrene
    [Aphakia correction with contact lenses in infantas after an early congenital cataract operation]
    2018 ►
  75. Repar Kokalj Mateja; Pfeifer Vladimir; Tekavčič Pompe Manca
    5-letno sledenje zamotnitve vidne osi po operaciji prirojene sive mrene v prvem letu življenja z ali brez vstavitve intraokularne leče
    [5-year follow-up of visual axis opacification after congenital cataract surgery in the first year of life with or without intraocular lens implantation]
    2018 ►
  76. Wormser Gary P.; Wormser Ronald P.; Strle Franc; Myers Ronnie; Cunha Burke A.
    How safe is doxycycline for young children or for pregnant or breastfeeding women?
    2019 ►
  77. Mazereeuw-Hautier Juliette; Vahlquist Anders; Traupe H.; Bygum A.; Amaro C.; Aldwin M.; Audouze A.; Bodemer C.; Bourrat E.; Diociaiuti A.; Dolenc-Voljč Mateja
    Management of congenital ichthyoses
    2019 ►
  78. Krgović Danijela; Stangler Herodež Špela; Marčun-Varda Nataša; Zagradišnik Boris; Zagorac Andreja; Erjavec Škerget Alenka; Kokalj-Vokač Nadja
    Congenital heart defects in patient with new KMT2D frameshift mutation
    2018 ►
  79. Fister Petja; Robek Domen; Paro Panjan Darja; Mazić Uroš; Lenasi Helena
    Decreased tissue oxygenation in newborns with congenital heart defects
    2018 ►
  80. Wambach Jennifer A.; Stettner Georg M.; Haack Tobias B.; Writzl Karin; Škofljanec Andreja; Maver Aleš; Munell Francina; Ossowski Stephan; Bosio Mattia
    Survival among children with lethal congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)
    2017 ►
  81. Alfirević Žarko; Navaratman Kate; Mujezinović Faris
    Amniocentesis and chorionic villus sampling for prenatal diagnosis
    2017 ►
  82. Črnej Alja; Paschalis Eleftherios I.; Salvador-Culla Borja; Tauber Allyson; Drnovšek-Olup Brigita; Shen Lucy Q.; Dohlman Claes H.
    Glaucoma progression and role of glaucoma surgery in patients with Boston keratoprosthesis
    2014 ►
  83. Kek Tina; Karas Kuželički Nataša; Mlinarič-Raščan Irena; Geršak Ksenija
    Characteristics of health behaviours and health status indicators among pregnant women in Slovenia
    [Navade, povezane z zdravjem in socialno demografske značilnosti nosečnic v Sloveniji]
    2017 ►
  84. Kovač Jernej; Klančar Gašper; Trebušak Podkrajšek Katarina; Battelino Saba
    Discovering the unexpected with the utilization of NGS in diagnostics of non-syndromic hearing loss disorders
    2017 ►
  85. Badiu Corin; Bonomi Marco; Borshchevsky Ivan; Cools Martine; Craen Margarita; Ghervan Cristina; Hauschild Michael; Hershkovitz Eli; Hrabovszky Erik; Juul Anders; Avbelj Magdalena
    Developing and evaluating rare disease educational materials co-created by expert clinicians and patients
    2017 ►
  86. Rochette Claire; Jullien Nicolas; Saveanu Alexandru; Caldagues Emmanuelle; Bergada Ignacio; Braslavsky Debora; Pfeifer Marija; Reynaud Rachel; Herman Jean-Paul; Barlier Anne
    Identifying the deleterious effect of rare LHX4 allelic variants, a challenging issue
    2015 ►
  87. Dolenšek Janez; Cvetko Erika; Snoj Žiga; Meznarič Marija
    Complete occipitalization of the atlas with bilateral external auditory canal atresia
    2017 ►
  88. Šabič Igor; Sirnik Andrej; Ključevšek Damjana
    Funkcijska MR-urografija pri prirojenih napakah sečil
    [Functional MR urography in congenital urinary tract anomalies in children]
    2016 ►
  89. Glušič Mojca; Kenig Tone; Ključevšek Damjana
    Slikovna diagnostika pri prirojenih napakah sečil z ektopičnim sečevodom
    [Imaging of congenital urinary anomalies with ectopic ureter]
    2016 ►
  90. Albreht Nina; Fister Petja
    Povečana nuhalna svetlina pri plodu - vidik pediatra
    [Increased foetal nuchal translucency - a paediatrician¼s perspective]
    2016 ►
  91. Koželj Mirta; Cvijić Marta; Berden Pavel; Podnar Tomaž
    A 6-year follow-up study of adult patients with congenitally corrected transposition
    2015 ►
  92. Ključevšek Damjana
    Pomen slikovnih metod pri prirojenih napakah sečil
    [Impact of radiological diagnosis in congenital uropathies]
    2016 ►
  93. Hribar Manja; Battelino Saba; Šuput Dušan; Araujo Carvalho Altiere; Vovk Andrej
    Kaj se zgodi s slušnimi področji v možganih pri gluhih od rojstva?
    [What happens with auditory brain areas in congenitally deaf adults?]
    2016 ►
  94. Kurent Alma; Stirn-Kranjc Branka; Brecelj Jelka
    Mrežnične distrofije v povezavi z nistagmusom pri otrocih
    2015 ►
  95. Bele Tjaša; Writzl Karin
    Klinične značilnosti pri preiskovancih z mikrodelecijskimi/mikroduplikacijskimi sindromi
    2015 ►
  96. Avšič-Županc Tatjana; Petrovec Miroslav
    Zika
    [Zika]
    2016 ►
  97. Burger Helena; Vidmar Gaj
    A survey of overuse problems in patients with acquired or congenital upper limb deficiency
    2016 ►
  98. Žebeljan Ivan; Čuić Vladimir
    The effect of Slovene national guidelines for detecting gestational diabetes mellitus on the congenital anomalies rate in Maribor
    2009 ►
  99. Završnik Tončka; Čuić Vladimir; Burja Silva; Takač Iztok
    Maternal diabetes and congenital anomalies in Maribor teaching hospital in 1997-2005
    2007 ►
  100. Postema Sietke G.; Bongers Raoul M.; Brouwers Michael A. H.; Burger Helena; Norling Hermansson Liselotte M.; Reneman Michiel F.; Dijkstra Pieter U.; Sluis Corry K. van der
    Musculoskeletal complaints in transverse upper limb reduction deficiency and amputation in the Netherlands
    2016 ►

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