biomedicina slovenica

"Chromosome deletion" : 45

  1. Bele Tjaša; Writzl Karin
    Klinične značilnosti pri preiskovancih z mikrodelecijskimi/mikroduplikacijskimi sindromi
    2015 ►
  2. Zagorac Andreja; Marčun-Varda Nataša; Kokalj-Vokač Nadja
    Del 1q-syndrome: a case report and literature review
    2009 ►
  3. Vergult Sarah; Krgović Danijela; Loeys Bart; Stoppa-Lyonet Dominique; Liedén Agne; Anderlid Britt-Marie; Sharkey Freddie; Joss Shelagh; Mortier Geert; Menten Björn
    Nasal speech and hyperthyroidism are common hallmarks of 12q15 microdeletions
    2011 ►
  4. Zagorac Andreja; Marčun-Varda Nataša; Kokalj-Vokač Nadja
    The 1q-syndrome: A case report and literature review
    2009 ►
  5. Zagorac Andreja; Marčun-Varda Nataša; Kokalj-Vokač Nadja
    The 1q-syndrome: A case report and literature review
    2009 ►
  6. Vergult Sarah; Krgović Danijela; Loeys Bart; Lyonnet Stanislas; Liedén Agne; Anderlid Britt-Marie; Sharkey Freddie; Joss Shelagh; Mortier Geert; Menten Björn
    Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
    2011 ►
  7. Krgović Danijela; Marčun-Varda Nataša; Zagorac Andreja; Kokalj-Vokač Nadja
    Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: case report
    2011 ►
  8. Writzl Karin; Lovrečić Luca; Vojtaššak Jan; Peterlin Borut
    SATB2 haploinsufficiency in patients with cleft palate
    2010 ►
  9. Reberšek Katarina; Černelč Peter; Podgornik Helena
    Pogostost in sopojavljanje ponavljajočih se kromosomskih sprememb pri bolnikih s plazmocitomom
    [Frequency and coexistence of recurrent chromosomal aberrations in multiple myeloma patients]
    2010 ►
  10. Vlastelić I; Buretić-Tomljanović A; Kapović M; Randić L; Tramisak-Milaković T; Ljiljak D; Radojčić-Badovinax A
    Chromosomal aberration and chromosome Y microdeletion of IVF-ICSI male patients
    2005 ►
  11. Writzl Karin; Lovrečić Luca; Peterlin Borut
    Interstitial deletion 2p11.2-p12: further delineation
    2009 ►
  12. Geršak Ksenija; Verdenik Ivan; Novak-Antolič Živa
    Karyotyping in symmetrically growth-restricted fetuses
    2009 ►
  13. Piškur Jure
    A 5 kb intergenic region containing ori1 in the mitochondrial DNA of Saccharomyces cerevisiae is dispensable for expression of the respiratory phenotype
    1988 ►
  14. Piškur Jure
    Respiratory-competent yeast mitochondrial DNAs generated by deleting intergenic regions
    1989 ►
  15. Writzl Karin; Cale Catherine M; Pierce Christine M; Wilson Louise C; Hennekam Raoul C
    Immunological abnormalities in CHARGE syndrome
    2007 ►
  16. Writzl Karin
    Pomen genomskih mutacij pri izbranih genetskih multifaktorskih boleznih
    2006 ►
  17. Writzl K; Zorn B; Peterlin B
    Preliminary analysis of AZFb region duplication by quantitative real-time PCR
    2006 ►
  18. Bregant L; Geršak K; Veble A
    Distal trisomy 10q / partial monosomy 14q: an unusual clinical picture
    2005 ►
  19. Medica I; Gligorievska N; Prenc M; Peterlin B
    Y microdeletions in the Istria country, Croatia
    2005 ►
  20. Firbas Peter
    Kako zdrava je voda: priročnik za biološki monitoring vode
    2004 ►
  21. Žitko S; Dolničar B; Writzl K
    Citogenetska in molekularno genetska analiza kromosoma Y pri neplodnem moškem
    [Cytogenetic and molecular genetic analysis of Y chromosome in an infertile man]
    2004 ►
  22. 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 ►
  23. Peterlin B; Kunej T; Hristovski D
    Diagnostic test for Y chromosome microdeletion screening in male infertility
    2004 ►
  24. Sporn A; Addington A; Reiss AL; Dean M; Gogtay N; Potočnik U
    22q11 deletion syndrome in childhood onset schizophrenia: an update
    2004 ►
  25. Leonardis Lea; Zidar Janez; Peterlin Borut
    Populacijska študija najpogostejših demielinizacijskih bolezni Charcot-Marie-Tooth v Sloveniji
    [The most frequent types of demyelinative Charot-Marie-Tooth disease in Slovenia: a population-based study]
    2003 ►
  26. Peterlin B; Kunej T; Writzl K
    Y chromosome microdeletions in subfertile men: clinical implications
    2003 ►
  27. Kunej Tanja; Zorn Branko; Peterlin Borut
    Y chromosome microdeletions in infertile men with cryptorchidism
    2003 ►
  28. Debeljak Maruša; Jazbec Janez
    Genetski, opredelitveni in terapevtski vidiki akutnih levkemij pri otrocih
    2003 ►
  29. Kunej T; Peterlin B
    Identifying male infertility associated genes of the Y chromosome using smallest regions of deletion overlaps smallest regions of deletion overlaps
    2003 ►
  30. Kunej Tanja
    Analiza genetskih vzrokov za neplodnost pri moškem
    [Analysis of gentic factors for male knfertility]
    2002 ►
  31. Peterlin B; Kunej T; Šinkovec J; Gligorievska N; Zorn B
    Screening for Y chromosome microdeletions in 226 Slovenian subfertile men
    2002 ►
  32. Besednjak-Kocijančič Lilijana; Stopar-Obreza Mirjam; Šavrič-Veličkov Hilda; Paro-Panjan Darja
    Sindrom cri du chat - prikaz primera
    [Cri du chat syndrome - case report]
    2001 ►
  33. Kunej Tanja
    Mikrodelecije Y kromosoma pri neplodnih moških
    2001 ►
  34. Hristovski Dimitar
    Odkrivanje genetskih zakonitosti iz biomedicinskih podatkov
    2000 ►
  35. Kunej Tanja
    Mikrodelecije Y kromosoma pri neplodnih moških
    [Microdeletions of the Y chromosome in infertile men]
    2000 ►
  36. Džeroski Sašo; Hristovski Dimitar; Peterlin Borut
    Using data mining and OLAP to discover patterns in a database of patients with Y-chromosome deletions
    2000 ►
  37. Frković-Grazio Snježana; Bračko Matej; Dobnik Sonja; Grat Mateja
    Sindrom 5q-
    [5q-syndrome]
    2000 ►
  38. Džeroski Sašo; Hristovski Dimitar; Kunej Tanja; Peterlin Borut
    A data mining approach to the development of a diagnostic test for male infertility
    2000 ►
  39. Kokalj-Vokač N
    Submikroskopske kromosomske preureditve
    [Submicroscopic chromosomal rearrangements]
    2000 ►
  40. Peterlin B; Kunej T; Zorn B
    Y chromosome deletions in the Slovene subfertile men
    1999 ►
  41. Peterlin B; Debevec M; Gregorič J; Kunej T; Zorn B; Drobnič S; Šinkovec J
    Genetic causes of male infertility
    1997 ►
  42. Leonardis Lea; Zidar Janez; Ekici Arif; Peterlin Borut; Rautenstrauss Bernd
    Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination "hotspot" in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation
    1998 ►
  43. Leonardis L; Zidar J; Peterlin B; Rautenstrauss B
    Recombination frequencies of CMT1 duplication and HNPP deletion inside a "hot spot"
    1997 ►
  44. Mičetić-Turk D; Zagorac A; Brunčko A
    Terminal long-arm deletion of chromosome 1 in a male child
    1997 ►
  45. Peterlin B; Kunej T; Zorn B; Drobnič S; Gregorič J; Debevec M
    Neplodnost kot posledica nepravilnosti kromosoma Y
    [Infertility as consequence of Y chromosome abnormality]
    1997 ►

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