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Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications

Clinical genetics, 2016-07, Vol.90 (1), p.99-101

2016

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Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

Balkan journal of medical genetics, 2015-12, Vol.18 (2), p.25-32

2015

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MTHFR C677T and A1298C Genotypes and Haplotypes in Slovenian Couples with Unexplained Infertility Problems and in Embryonic Tissues from Spontaneous Abortions

Balkan journal of medical genetics, 2013-06, Vol.16 (1), p.31-39

2013

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Molecular Diagnosis of PMP22 Gene Duplications and Deletions: Comparison of Different Methods

Journal of international medical research, 2009-09, Vol.37 (5), p.1626-1631

2009

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The World's oldest living grapevine specimen and its genetic relationships

Vitis, 2011, Vol.50 (4), p.167-171

2011

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48 Polymorphisms In α-Adducin (G460w) and G-Protein β-3 Subunit (C825t) Genes In Essential Hypertension

Therapeutic apheresis, 2005-02, Vol.9 (1), p.96-96

2005

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49 Mutation Screening in Patients with Vesico-Ureteric Reflux

Therapeutic apheresis, 2005-02, Vol.9 (1), p.96-96

2005

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IMPORTANCE OF CELIAC DISEASE PATIENTS LACKING HLA DQ2 OR DQ8 HETERODIMER IN SLOVENIA

Journal of pediatric gastroenterology and nutrition, 2006-05, Vol.42 (5), p.E18-E19-E18-E19

2006

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Prostate cancer and polymorphism D85Y in gene for dihydrotestosterone degrading enzyme UGT2B15: Frequency of DD homozygotes increases with Gleason Score

The Prostate, 2004-06, Vol.59 (4), p.436-439

2004

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Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12

Molecular biology and evolution, 2007-06, Vol.24 (6), p.1300-1311

2007

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P0132 PP NOD2/CARD15 MUTATIONS IN PAEDIATRIC CROHN’S DISEASE AND COELIAC DISEASE

Journal of pediatric gastroenterology and nutrition, 2004-06, Vol.39 (S1), p.S108-S108

2004

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Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q

American journal of medical genetics, 2003-12, Vol.123A (2), p.164-168

2003

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Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome

Clinical genetics, 2002-01, Vol.61 (1), p.54-61

2002

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Hypomethylation of alphoid DNA and classical satellite DNA on chromosome 1, 9, 16 and Y in extraembryonic tissue

Pflügers Archiv, 2000, Vol.440 (5 Suppl), p.R190-R192

2000

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P0412 HLA DQ2 AND HLA DQ8 DETERMINATION IN COELIAC PATIENTS IN NORTH EAST SLOVENIA

Journal of pediatric gastroenterology and nutrition, 2004-06, Vol.39, p.S212-S213

2004

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Polymorphisms in four candidate genes in young patients with essential hypertension

Acta pædiatrica (Oslo), 2006-03, Vol.95 (3), p.353-358

2006

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Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation

Pediatric nephrology (Berlin, West), 2005-09, Vol.20 (9), p.1346-1348

2005

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1031 Polymorphism d85y in gene ugt2b15 may become prognostic factor for prostate cancer

European urology supplements : official journal of the European Association of Urology, 2005-03, Vol.4 (3), p.260-260

2005

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Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications

Clinical genetics, 2016, Vol.90 (1), p.99-101

2016

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ANTI‐SACCHAROMYCES CEREVISIAE ANTIBODIES ARE ASSOCIATED WITH DISEASE ACTIVITY AND LOW BODY MASS INDEX, BUT NOT WITH NOD2/CARD15 MUTATIONS IN PEDIATRIC CROHN'S DISEASE

Journal of pediatric gastroenterology and nutrition, 2005-05, Vol.40 (5), p.642-643

2005

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ANTI-SACCHAROMYCES CEREVISIAE ANTIBODIES ARE ASSOCIATED WITH DISEASE ACTIVITY AND LOW BODY MASS INDEX, BUT NOT WITH NOD2/CARD15 MUTATIONS IN PEDIATRIC CROHN??S DISEASE: PG2-08

Journal of pediatric gastroenterology and nutrition, 2005-05, Vol.40 (5), p.642-643

2005

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ANTI‐SACCHAROMYCES CEREVISIAE ANTIBODIES ARE ASSOCIATED WITH DISEASE ACTIVITY AND LOW BODY MASS INDEX, BUT NOT WITH NOD2/CARD15 MUTATIONS IN PEDIATRIC CROHN'S DISEASE: PG2‐08

Journal of pediatric gastroenterology and nutrition, 2005-05, Vol.40 (5), p.642-643

2005

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PANCREATIC AUTOANTIBODIES ARE ASSOCIATED WITH ANTI‐SACCHAROMYCES CEREVISIAE ANTIBODIES BUT NOT WITH NOD2/CARD15 MUTATIONS IN PEDIATRIC CROHN'S DISEASE

Journal of pediatric gastroenterology and nutrition, 2006-05, Vol.42 (5), p.E31-E31

2006

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Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion

European journal of pediatrics, 2004-11, Vol.163 (11), p.658-663

2004

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P0412 HLA DQ2 AND HLA DQ8 DETERMINATION IN COELIAC PATIENTS IN NORTH EAST SLOVENIA

Journal of pediatric gastroenterology and nutrition, 2004-06, Vol.39 (S1)

2004

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Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications

Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

MTHFR C677T and A1298C Genotypes and Haplotypes in Slovenian Couples with Unexplained Infertility Problems and in Embryonic Tissues from Spontaneous Abortions

Molecular Diagnosis of PMP22 Gene Duplications and Deletions: Comparison of Different Methods

The World's oldest living grapevine specimen and its genetic relationships

48 Polymorphisms In α-Adducin (G460w) and G-Protein β-3 Subunit (C825t) Genes In Essential Hypertension

49 Mutation Screening in Patients with Vesico-Ureteric Reflux

IMPORTANCE OF CELIAC DISEASE PATIENTS LACKING HLA DQ2 OR DQ8 HETERODIMER IN SLOVENIA

Prostate cancer and polymorphism D85Y in gene for dihydrotestosterone degrading enzyme UGT2B15: Frequency of DD homozygotes increases with Gleason Score

Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12

P0132 PP NOD2/CARD15 MUTATIONS IN PAEDIATRIC CROHN’S DISEASE AND COELIAC DISEASE

Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q

Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome

Hypomethylation of alphoid DNA and classical satellite DNA on chromosome 1, 9, 16 and Y in extraembryonic tissue

P0412 HLA DQ2 AND HLA DQ8 DETERMINATION IN COELIAC PATIENTS IN NORTH EAST SLOVENIA

Polymorphisms in four candidate genes in young patients with essential hypertension

Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation

1031 Polymorphism d85y in gene ugt2b15 may become prognostic factor for prostate cancer

Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications

ANTI‐SACCHAROMYCES CEREVISIAE ANTIBODIES ARE ASSOCIATED WITH DISEASE ACTIVITY AND LOW BODY MASS INDEX, BUT NOT WITH NOD2/CARD15 MUTATIONS IN PEDIATRIC CROHN'S DISEASE

ANTI-SACCHAROMYCES CEREVISIAE ANTIBODIES ARE ASSOCIATED WITH DISEASE ACTIVITY AND LOW BODY MASS INDEX, BUT NOT WITH NOD2/CARD15 MUTATIONS IN PEDIATRIC CROHN??S DISEASE: PG2-08

ANTI‐SACCHAROMYCES CEREVISIAE ANTIBODIES ARE ASSOCIATED WITH DISEASE ACTIVITY AND LOW BODY MASS INDEX, BUT NOT WITH NOD2/CARD15 MUTATIONS IN PEDIATRIC CROHN'S DISEASE: PG2‐08

PANCREATIC AUTOANTIBODIES ARE ASSOCIATED WITH ANTI‐SACCHAROMYCES CEREVISIAE ANTIBODIES BUT NOT WITH NOD2/CARD15 MUTATIONS IN PEDIATRIC CROHN'S DISEASE

Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion

P0412 HLA DQ2 AND HLA DQ8 DETERMINATION IN COELIAC PATIENTS IN NORTH EAST SLOVENIA

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