biomedicina slovenica

"Karyotype" : 58

  1. Zupanič Sanja; Kruljac Ivona; Šoštarič Mojca; Drobnič Radobuljac Maja
    Adolescent with autism and gender dysphoria
    2021 ►
  2. Watad Abdulla; Kačar Mark; Bragazzi Nicola Luigi; Zhou Qiao; Jassam Miriam; Taylor Jan; Roman Eve; Smith Alexandra; Jones Richard A.; Amital Howard
    Somatic mutations and the risk of undifferentiated autoinflammatory disease in MDS
    2021 ►
  3. Gregorič Kumperščak Hojka; Krgović Danijela; Drobnič Radobuljac Maja; Šenica Nina; Zagorac Andreja; Kokalj-Vokač Nadja
    CNVs and chromosomal aneuploidy in patients with early-onset schizophrenia and bipolar disorder
    2021 ►
  4. Baliakas Panagiotis; Jeromin Sabine; Iskas Michalis; Puiggros Anna; Plevova Karla; Nguyen-Khac Florence; Davis Zadie; Rigolin Gian Matteo; Visentin Andrea; Xochelli Aliki; Podgornik Helena
    Cytogenetic complexity in chronic lymphocytic leukemia
    2019 ►
  5. Shishido Yurina; Baba Takashi; Sato Tetsuya; Shima Yuichi; Miyabayashi Kanako; Inoue Miki; Akiyama Haruhiko; Kimura Hiroshi; Kanai Yoshiakira; Rozman Damjana
    Differential lactate and cholesterol synthetic activities in XY and XX Sertoli cells
    2017 ►
  6. Vrtačnik-Bokal Eda
    Increased nuchal translucency and normal karyotype
    2014 ►
  7. Erjavec Škerget Alenka; Stangler Herodež Špela; Zagorac Andreja; Zagradišnik Boris; Kokalj-Vokač Nadja
    Uporaba primerjalne genomske hibridizacije kot diagnostične metode v medicinskem genetskem laboratoriju
    [The use of comparative genomic hybridization as a diagnostic tool in medical genetics laboratories]
    2011 ►
  8. Zagradišnik Boris; Stangler Herodež Špela; Erjavec Škerget Alenka; Zagorac Andreja; Kokalj-Vokač Nadja
    Detection of aneuploidy using multiplex ligation-dependent probe amplification in fetal tissues from aborted pregnancies
    [Določanje anevploidij z metodo pomnoževanja od ligacije odvisnih prob v fetalnih tkivih splavkov]
    2011 ►
  9. Kokalj-Vokač Nadja
    Analysis of human structural variation from karyotype to microarrays
    2009 ►
  10. Remec Žiga Iztok; Volk Marija; Writzl Karin; Peterlin Borut
    Prenatal diagnosis of dub(16)(p11.2p11.2), a cytogenetically visible euchromatic variant inherited form father
    2013 ►
  11. Podgornik Helena; Pretnar Jože; Skopec Barbara; Andoljšek Dušan; Černelč Peter
    Concurrent rearrangements of BCL2, BCL3, and BCL11A genes in atypical chronic lymphocytic leukemia
    2014 ►
  12. Geršak Ksenija; Strah Darija M.; Pohar Perme Maja
    Increased fetal nuchal translucency thickness and normal karyotype: prenatal and postnatal outcome
    2013 ►
  13. Stangler Herodež Špela; Zagradišnik Boris; Erjavec Škerget Alenka; Zagorac Andreja; Takač Iztok; Vlaisavljević Veljko; Lokar Lidija; Kokalj-Vokač Nadja
    MTHFR C677T and A1298C genotypes and haplotypes in Slovenian couples with unexplained infertility problems and in embryonic tissues from spontaneous abortions
    2013 ►
  14. Erjavec Škerget Alenka; Stangler Herodež Špela; Zagradišnik Boris; Kokalj-Vokač Nadja
    Kvantitativna fluorescenčna verižna reakcija s polimerazo (QF-PRC) kot alternativni test za hitro prenatalno genetsko testiranje
    [Quantitative fluorescent polimerase chain reaction (QF-PCR) as an alternative test for rapid prenatal genetic testing]
    2011 ►
  15. Stajić Nataša; Rajić Vladan; Zdravković Dragan; Marjanović Borivoj; Zamurović Dragan; Gujanica Zorica; Vlahović Gordana; Bogdanović Radovan
    Šimkeova imunsko-koštana displazija
    [Schimke immuno-osseous dysplasia]
    2001 ►
  16. Geršak K; Veble A
    Low-level X chromosome mosaicism in women with sporadic premature ovarian failure
    2011 ►
  17. Mujezinović Faris; Prosnik Anica; Alfirević Žarko
    Different communication strategies for disclosing results of diagnostic prenatal testing
    2010 ►
  18. Sever Matjaž; Kantarjian Hagop; Pierce Sherry; Jain Nitin; Estrov Zeev; Cortes Jorge; Verstovsek Srdan
    Cytogenetic abnormalities in essential thrombocythemia at presentation and transformation
    2009 ►
  19. Geršak K; Writzl K; Veble A; Liehr T
    Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome
    2010 ►
  20. Brajenović-Milić Bojana; Tišljarić Dubravka; Petrović Oleg; Prodan Mirko; Ristić Smiljana; Marout Jasminka; Herman Radoslav; Kapović Miljenko
    The influence of fetal sex and mother's smoking and parity on AFP and free beta-HCG concentrations in amniotic fluid of unaffected second trimester pregnancies
    2007 ►
  21. Brajenović-Milić Bojana; Petrović Oleg; Krašević Maja; Ristić Smiljana; Kapović Miljenko
    Chromosomal anomalies in abnormal human pregnancies
    1998 ►
  22. Radojčić-Badovinac Andjelka; Buretić-Tomljanović Alena; Starčević Nada; Kapović Miljenko; Vlastelić Ivica; Randić Ljiljana
    Chromosome studies in patients with defective reproductive success
    2000 ►
  23. Babić Ivana; Brajenović-Milić Bojana; Petrović Oleg; Mustać Elvira; Kapović Miljenko
    Prenatal diagnosis of complete trisomy 19q
    2007 ►
  24. Vraneković J; Brajenović-Milić B; Modrušan-Mozetić Z; Babić I; Kapović M
    Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p
    2008 ►
  25. Strah Darija; Šušteršič Breda; Geršak Ksenija
    Sledenje razvoja pri deklici z rekombinantnim Downovim sindromom do starosti treh let in pol
    [Developmental follow-up of a female infant with recombinant Down syndrome up to three and a half years]
    2009 ►
  26. Strah D; Veble A; Rudolf G; Writzl K; Geršak K
    A Down syndrome female infant with partial trisomy of chromosome 21-abnormal nuchal translucency screening test
    2008 ►
  27. Rozman Tamara; Dovč Peter; Marić Saša; Kokalj-Vokač Nadja; Erjavec Škerget Alenka; Rab P.; Snoj Aleš
    Evidence for two transferrin loci in the Salmo trutta genome
    2008 ►
  28. Petersen Randi Fons; Nilsson-Tillgren Torsten; Piškur Jure
    Karyotypes of Saccharomyces sensu lato species
    1999 ►
  29. Langkjaer RB; Nielsen ML; Daugaard PR; Liu W; Piškur J
    Yeast chromosomes have been significantly reshaped during their evolutionary history
    2000 ►
  30. Špirek Mario; Yang Jun; Groth Casper; Petersen Randi F; Langkjaer Rikke B; Naumova Elena S; Sulo Pavol; Naumov Gennadi I; Piškur Jure
    High-rate evolution of Saccharomyces sensu lato chromosomes
    2003 ►
  31. Podgornik Helena; Prijatelj Alenka; Černelč Peter
    Citogenetske preiskave pri slovenskih bolnikih z akutno levkemijo
    [Cytogenetic analysis in Slovenian acute leukemia patients]
    2008 ►
  32. Writzl K; Hoovers Jan; Sistermans Erik A; Hennekam Raoul C
    LEOPARD syndrome with partly normal skin and sex chromosome mosaicism
    2007 ►
  33. Erjavec-Škerget Alenka
    Presejalni testi za iskanje kromosomskih sprememb pri idiopatski duševni manjrazvitosti
    2006 ►
  34. Zagorac Andreja; Erjavec-Skerget Alenka; Zagradišnik Boris; Zver Samo; Glaser Marjana; Kokalj-Vokač Nadja
    Karyotype, FISH and CGH in a case of plasmacytoid dendritic cell leukemia
    [Kariotip, fluorescentna hibridizacija in situ in primerjalna genomska hibridizacija na primeru levkemije plazmacitoidnih dendritičnih celic]
    2005 ►
  35. Stangler-Herodež Špela; Zagradišnik Boris; Kokalj-Vokač Nadja
    Rapid prenatal diagnosis of chromosomal aneuploidy with multiplex ligation-dependent probe amplification (MLPA)
    [Hitra prenatalna diagnostika kromosomskih anevploidij z MLPA (multiplex ligation-dependent probe amplification - hkratno pomnoževanje od ligacije odvisnih sond)]
    2005 ►
  36. Bache Iben; Van Assche Elvire; Cingoz Sultan; Bugge Merete; Tuemer Zeynep; Hjorth Mads; Lundsteen Claes; Lespinasse James; Winther Kirsten; Kokalj-Vokač Nadja
    An excess of chromosome 1 breakpoints in male infertility
    2004 ►
  37. Kokalj-Vokač Nadja; Marčun-Varda Nataša; Zagorac Andreja; Erjavec-Skerget Alenka; Zagradišnik Boris; Todorovič Mirjana; Gregorič Alojz
    Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion
    2004 ►
  38. Zver Samo; Kokalj-Vokač Nadja; Zagradišnik Boris; Erjavec Alenka; Zagorac Andreja; Preložnik-Zupan Irena; Černelč Peter
    T cell prolymphocytic leukemia with new chromosome rearrangements
    2004 ►
  39. Kusec Rajko; Marušić-Vršalović Maruška; Vranić-Bobetić Tanja; Ostojić Slobodanka; Mingo Hrvoje; Jakšić Branimir
    FMS-like tyrosine kinase (FLT3) gene ITD mutation in acute myeloid leukemia
    [Mutacija gena FLT3 pri akutni mieloblastni levkemiji]
    2004 ►
  40. Erjavec-Škerget Alenka; Zagradišnik Boris; Kokalj-Vokač Nadja
    Subtelomerne kromosomske preureditve - eden od vzrokov za idiopatsko mentalno retardacijo
    [Subtelomeric chromosomal abberations - one of the reasons for idiopathic mental retardation]
    2003 ►
  41. Geršak Ksenija; Meden-Vrtovec Helena; Peterlin Borut
    Fragile X premutation in women with sporadic premature ovarian failure in Slovenia
    2003 ►
  42. Fister Petja
    Zapleti v nosečnosti pri preiskovankah z lažno pozitivnim rezultatom trojnega presejalnega testa
    2002 ►
  43. Laeuchli S; Hafner J; Burg G
    Refractory leg ulcers in a patient with 48,XXYY, a rare variant of Klinefelter's syndrome
    2002 ►
  44. Tul-Mandić N; Steblovnik L; Geršak K; Premru-Sršen T; Fister P; Novak-Antolič Ž
    Outcome of pregnancies with abnormal values of hCG, AFP and uE3 and normal karyotype in the second trimester or abnormal values of free beta-hCG and PAPP-A and normal karyotype in the first trimester
    2001 ►
  45. Kokalj-Vokač Nadja; Medica Igor; Zagorac Andreja; Zagradišnik Boris; Erjavec Alenka; Gregorič Alojz
    A case of insertional translocation resulting in partial trisomy 16p
    2000 ►
  46. Frković-Grazio Snježana; Bračko Matej; Dobnik Sonja; Grat Mateja
    Sindrom 5q-
    [5q-syndrome]
    2000 ►
  47. Modic Mojca
    Zdravljenje akutne limfoblastne levkemije odraslih s protokolom UKALL XII
    [Treatment of acute limphoblastic leukemia in adults with UKALL XII protocol]
    2000 ►
  48. Puizina J; Kamenjarin J; Trinajstić I; Papeš D
    Chromosome number, karyotype structure and rDNA organization of the Croatian endemic species, Hyacinthella dalmatica (Lallem.) Trinajstić
    2000 ►
  49. Zagorac A; Kokalj-Vokač N; Medica I
    Parcialna trisomija končnega dela dolgega kraka kromosoma 10: prikaz primera
    [A case of partial trisomy 10qter]
    2000 ►
  50. Dionigi A; Facco C; Tibiletti MG; Feltri M; Riva C; Capella C
    Ovarian metastases: clinico-pathological profile, immunophenotype and karyotype analysis
    1999 ►
  51. Bourgeois CA; Kokalj-Vokač N; Dutrillaux AM; Poisson M; Delattre JY; Vega F; Malfoy B; Dutrillaux B
    Caracterisation par hybridation in situ des remaniements chromosomiques dans un glioblastome
    1994 ►
  52. Rojc-Pečnik V; Volavšek Č; Černelč P
    Kromosomske nepravilnosti pri bolnikih z akutno levkemijo
    [Chromsomal abnormalities in acute leukemia]
    1995 ►
  53. Rozman D; Jezernik K; Komel R
    Ultrastructure and genotypic characterization of the filamentous fungus Cochliobolus lunatus in comparison to the anamorphic strain Curvularia lunata
    1994 ►
  54. Debevec M; Canki-Klain N; Brezigar A; Blejec T; Cerar V
    Abnormal pregnancy sonogram and chromosomal anomalies
    1992 ►
  55. Lefrancois D; Kokalj N; Viegas-Pequignot E; Montagnier L; Dutrillaux B
    High recurrence of rearrangements involving chromosome 14 in an ataxia telangiectasia lymphoblastoid cell line and in its mutagen-treated derivatives
    1991 ►
  56. Rozman Damjana
    Heterologna transformacija in steroidni metabolizem filamentozne glive Cochliobolus lunatus
    1993 ►
  57. Zhang SM; Reddy PVGK; Khan HA
    Karyomorphological studies in four species of freshwater fishes from India
    1991 ►
  58. Al-Sabti K
    Karyotypes of Cyprinus carpio and Leuciscus cephalus
    1986 ►

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