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Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

PloS one, 2018-01, Vol.13 (1), p.e0188578-e0188578

2018

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A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study

PloS one, 2023-12, Vol.18 (12), p.e0294969-e0294969

2023

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Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

International journal of molecular sciences, 2021-01, Vol.22 (3), p.1084

2021

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Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups

Archives of pathology & laboratory medicine (1976), 2024-10, Vol.148 (10), p.1135-1144

2024

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A multicenter study of genetic testing for Parkinson’s disease in the clinical setting

NPJ Parkinson's Disease, 2022-11, Vol.8 (1), p.149-4, Article 149

2022

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The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e658-n/a

2019

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A case of avoidable heterotopic pregnancy after single embryo transfer

Reproductive biomedicine online, 2015-06, Vol.30 (6), p.622-624

2015

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Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study

Journal of cardiovascular translational research, 2024-08

2024

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CTG amplification in the DM1PK gene is not associated with idiopathic male subfertility

Human reproduction (Oxford), 2004-09, Vol.19 (9), p.2084-2087

2004

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Functional impairment of precerebral arteries in Huntington disease

Journal of the neurological sciences, 2017-01, Vol.372, p.363-368

2017

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A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study

PloS one, 2023-01, Vol.18 (12)

2023

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The frequency of CNV s in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6)

2019

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Androgen receptor gene (CAG)n polymorphism in patients with polycystic ovary syndrome

Fertility and sterility, 2008-09, Vol.90 (3), p.860-863

2008

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The -429 T/C and -374 T/A gene polymorphisms of the receptor of advanced glycation end products gene (RAGE) are not risk factors for coronary artery disease in Slovene population with type 2 diabetes

Collegium antropologicum, 2004-12, Vol.28 (2), p.611-616

2004

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P182: Arteries in Patients with Huntington’s Disease

Artery research, 2017-12, Vol.20 (1), p.105-106

2017

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Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina

Collegium antropologicum, 2006-09, Vol.30 (3), p.555-558

2006

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Current practice and future perspective of the Prenatal Genetic Service in Slovenia

Paediatria Croatica, 2015-06, Vol.59 (2), p.106-111

2015

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Insertion/deletion polymorphism of angiotensin-converting enzyme gene--risk factor for coronary artery disease in the Tuzla region population (Bosnia and Herzegovina)

Collegium antropologicum, 2003-12, Vol.27 (2), p.537

2003

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The ScaI gene polymorphism of the atrial natriuretic factor and essential arterial hypertension in childhood

Collegium antropologicum, 2004-12, Vol.28 (2), p.617-622

2004

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Patients with primary cataract as a genetic pool of DMPK protomutation

Journal of human genetics, 2007-02, Vol.52 (2), p.123-128

2007

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The (TAAAA)n microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome

Human reproduction (Oxford), 2007-04, Vol.22 (4), p.1031-1036

2007

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Deletion/Deletion genotype of angiotensin-I converting enzyme gene is not associated with coronary artery disease in caucasians with type 2 diabetes

Collegium antropologicum, 2005-06, Vol.29 (1), p.149-152

2005

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Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation

Biochemia Medica, 2015-01, Vol.25 (1), p.84-89

2015

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Arteries in patients with Huntington's disease

Artery research, 2017-12, Vol.20, p.105-106

2017

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The (TAAAA) sub(n) microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome

Human reproduction (Oxford), 2007-04, Vol.22 (4), p.1031-1036

2007

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Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups

A multicenter study of genetic testing for Parkinson’s disease in the clinical setting

The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

A case of avoidable heterotopic pregnancy after single embryo transfer

Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study

CTG amplification in the DM1PK gene is not associated with idiopathic male subfertility

Functional impairment of precerebral arteries in Huntington disease

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study

The frequency of CNV s in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

Androgen receptor gene (CAG)n polymorphism in patients with polycystic ovary syndrome

The -429 T/C and -374 T/A gene polymorphisms of the receptor of advanced glycation end products gene (RAGE) are not risk factors for coronary artery disease in Slovene population with type 2 diabetes

P182: Arteries in Patients with Huntington’s Disease

Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina

Current practice and future perspective of the Prenatal Genetic Service in Slovenia

Insertion/deletion polymorphism of angiotensin-converting enzyme gene--risk factor for coronary artery disease in the Tuzla region population (Bosnia and Herzegovina)

The ScaI gene polymorphism of the atrial natriuretic factor and essential arterial hypertension in childhood

Patients with primary cataract as a genetic pool of DMPK protomutation

The (TAAAA)n microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome

Deletion/Deletion genotype of angiotensin-I converting enzyme gene is not associated with coronary artery disease in caucasians with type 2 diabetes

Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation

Arteries in patients with Huntington's disease

The (TAAAA) sub(n) microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome

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