Pregled po CROSBI profilu: Silva Katušić Hećimović (CROSBI Profil: 24514, MBZ: 187522)
Pronađeno 174 radova
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151.Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother // American journal of medical genetics. Part A, 120A (2003), 2; 266-271 doi:10.1002/ajmg.a.20017 (međunarodna recenzija, članak, znanstveni)
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152.Genetic background of Huntington disease in Croatia: molecular analysis of CAG, CCG, and delta 642 (E2642del)polymorphisms // Human mutation, 20 (2002), 3; 233-241 doi:10.1002/humu.9055 (međunarodna recenzija, članak, znanstveni)
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153.Abeta and s3-like cleavage are independent processes within the TM-domain of APP // Society for Neuroscience, Program No. 122.10
Washington (MD), 2002. (predavanje, međunarodna recenzija, sažetak, znanstveni) -
154.Processing and activity of two naturally occuring splice variants of presenilin 2 // Abstracts of the 8th International Conference on Alzheimer's Disease and Related Disorders ; u: Neurobiology of Aging 23 (2002) (S1)
Stockholm, Švedska, 2002. str. S216-S217 (poster, međunarodna recenzija, sažetak, znanstveni) -
155.Paternal origin of der(X)t(X ; 6) in a girl with trisomy 6p // European Human Genetics Conference 2002 in conjunction with EMPAG 2002 - European Meeting on Psychosocial Aspects of Genetics 2002. : Abstracts. European Journal of Human Genetics. 10(Suppl 1), 2002
Strasbourg, Francuska, 2002. str. 143-143 (poster, sažetak, znanstveni) -
156.The first case of the FRAXE form of inherited mental retardation in Croatia // European Journal of Pediatrics, 161 (2002), 2; 112-113 (međunarodna recenzija, članak, znanstveni)
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157.Screening for fragile X syndrome: results from a school for mentally retarded children // Acta Paediatrica, 91 (2002), 5; 535-539 (međunarodna recenzija, članak, znanstveni)
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158.Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X populaton in Croatia // Abstracts of the 10th International Congress of Human Genetics ; u: European Journal of Human Genetics 9 (2002) (S)
Beč, Austrija, 2001. str. 284-284 (poster, međunarodna recenzija, sažetak, znanstveni) -
159.Genotype-phenotype correlaton in Croatian Cystic Fibrosis Patients // Abstracts of the 10th International Congress of Human Genetics ; u: European Journal of Human Genetics 9 (2002) (S)
Beč, Austrija, 2001. str. 205-205 (poster, međunarodna recenzija, sažetak, znanstveni) -
160.The first case of FRAXE mental retardation in Croatia // Abstracts of the 10th International Congress of Human Genetics ; u: European Journal of Human Genetics 9 (2002) (S)
Beč, Austrija, 2001. str. 178-178 (poster, međunarodna recenzija, sažetak, znanstveni) -
161.Cystic fibrosis mutations in Croatian patients // The secnond European-American intensive course in clinical and forensic genetics / Primorac, Dragan (ur.).
Zagreb: -, 2001. str. 99-99 (poster, međunarodna recenzija, sažetak, ostalo) -
162.Cytogenetic, FISH and molecular analysis in the girl with unbalanced t(X ; 6) and her mother presenting t(6 ; 10) // The Second European-American Intensive Course in Clinical and Forensic Genetics / Primorac, Dragan (ur.).
Zagreb, 2001. str. 125-125 (poster, međunarodna recenzija, sažetak, znanstveni) -
163.Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X population in Croatia // 2nd International Conference on Signal Transduction. European Journal of Human Genetics 9(1), 2001
Cavtat, Hrvatska; Dubrovnik, Hrvatska, 2001. str. 284-284 (poster, sažetak, znanstveni) -
164.Genotype-phenotype correlation in Croatian cystic fibrosis patients // 2nd International Conference on Signal Transduction. European Journal of Human Genetics 9(1), 2001
Cavtat, Hrvatska; Dubrovnik, Hrvatska, 2001. str. 205-205 (poster, sažetak, znanstveni) -
165.A simple and rapid analysis of triplet repeat diseases by Expand Long PCR // Clinical Chemistry and Laboratory Medicine, 39 (2001), 12; 1259-1262 (međunarodna recenzija, članak, znanstveni)
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166.DNA analysis : contribution to diagnosis in advanced stages of DMD/BMD // Acta myologica, 19 (2000) (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)
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167.Razvoj metode za brzo otkrivanje dinamičnih mutacija u sindromu fragilnog X, 2000., doktorska disertacija, Prehrambeno-biotehnološki fakultet, Zagreb
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168.The incidence of cystic fibrosis (CF) mutations among patients from Croatia // Clinical Genetics, 58 (2000), 4; 333-335 (međunarodna recenzija, članak, znanstveni)
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169.Etičko promišljanje liječnika - nekad i danas // Paediatria Croatica, 43 (1999), 1. (međunarodna recenzija, pregledni rad, znanstveni)
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170.Epilepsija i EEG zapisi u bolesnika s mutacijomm u FMR1 genu // Paediatria Croatica, 43 (1999), 3; 105-110 (međunarodna recenzija, članak, znanstveni)
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171.Trinucleotide Repeat Diseases - DNA molecular analysis using a simple Expand Long PCR assay // Periodicum Biologorum, 100 (1998), 3; 353-360 (međunarodna recenzija, članak, znanstveni)
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172.DNA Analysis of the Fragile X Syndrome in an at Risk Pediatric Population in Croatia: Simple Clinical Preselection Criteria Can Considerably Improve the Cost-Effectiveness of Fragile X Screening Studies // Human Heredity, 48 (1998), 5; 256-265 (međunarodna recenzija, članak, znanstveni)
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173.Expand long PCR for fragile X mutation detection // Clinical genetics, 52 (1997), 3; 147-154 (međunarodna recenzija, članak, znanstveni)
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174.Comparative studies of some substituted anilines as alternative hydrogen donors in peroxidase reaction // Periodicum biologorum. Supplement, 93 (1991), 27-30 (podatak o recenziji nije dostupan, članak, znanstveni)
